ChromosOmics - Database

Icon by Leon Liehr                   

                                                     - REFERENCES for #15 -                                                              

      0. Liehr et al. unpublished data
  1. Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, Von Eggeling F, Liehr T.
    Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.
    Hum Genet. 2003 Dec;114(1):51-67.
  2. Nietzel A, Albrecht B, Starke H, Heller A, Gillessen-Kaesbach G, Claussen U, Liehr T.
    Partial hexasomy 15pter-->15q13 including SNRPN and D15S10: first molecular cytogenetically proven case report.
    J Med Genet. 2003 Mar;40(3):e28.
  3. Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, Wlodarska I, Loncarevic IF, Beensen V, Claussen U, Liehr T.
    A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH).
    Hum Genet. 2001 Mar;108(3):199-204.
  4. Liehr T, Nietzel A, Rocchi M, Heller A, Starke H, Claussen U, v Eggeling F.
    Centromere-specific  multicolor-FISH (cenM-FISH) followed by analysis for uniparental disomy - a useful tool in prenatal diagnosis.
    In: Early prenatal diagnosis, fetal cells andDNA in the mother - present state and perpectives.
    The Karolinum Press, Prag, 2002, pp 293-300, ISBN: 80-246-0397-7.
  5. Tung G, Covert SM, Malabed KL, Wohlferd MM, Beckerman KP, Goldberg JD, Cotter PD.
    Minute supernumerary marker chromosomes identified in two patients with a related, larger pseudodicentric chromosome.
    Am J Med Genet. 2001 Oct 15;103(3):193-197.
  6. Cotter PD, Ledesma CT, Dietz LG, Pusso S, Wohlferd MM, Goldberg JD.
    Prenatal diagnosis of supernumerary marker 15 chromosomes and exclusion of uniparental disomy for chromosome 15.
    Prenat Diagn. 1999 Aug;19(8):721-726.
  7. Rauch A, Pfeiffer RA, Trautmann U, Liehr T, Rott HD, Ulmer R.
    A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH).
    Clin Genet. 1992 Aug;42(2):84-90.
  8. Heppell-Parton AC, Waters JJ.
    Robertsonian translocation and an extra microchromosome: independent origin identified by in situ hybridization.
    Clin Genet. 1991 Feb;39(2):93-96.
  9. Waters JJ, Howard PJ.
    Robertsonian translocation and extra microchromosome.
    Clin Genet. 1988 Aug;34(2):140-141.
  10. Howard PJ, Fielding DW.
    Robertsonian translocation and an extra microchromosome: aetiology and effect on meiotic segregation.
    Clin Genet. 1987 Jul;32(1):57-60.
  11. Schreck RR, Breg WR, Erlanger BF, Miller OJ.
    Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15.
    Hum Genet. 1977 Apr 7;36(1):1-12.
  12. Blennow E, Bui TH, Kristoffersson U, Vujic M, Anneren G, Holmberg E, Nordenskjold M.
    Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization.
    Prenat Diagn. 1994 Nov;14(11):1019-1028.
  13. Van Dyke DL, Weiss L, Logan M, Pai GS.
    The origin and behavior of two isodicentric bisatellited chromosomes.
    Am J Hum Genet. 1977 May;29(3):294-300.
  14. Qumsiyeh MB, Rafi SK, Sarri C, Grigoriadou M, Gyftodimou J, Pandelia E, Laskari H, Petersen MB
    Double supernumerary isodicentric chromosomes derived from 15 resulting in partial hexasomy.
    Am J Med Genet. 2003 Feb 1;116A(4):356-359.
  15. Blennow E, Nielsen KB, Telenius H, Carter NP, Kristoffersson U, Holmberg E, Gillberg C, Nordenskjold M.
    Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization.
    Am J Med Genet. 1995 Jan 2;55(1):85-94.
  16. Bartsch O, Schwinger E.
    A simplified protocol for fluorescence in situ hybridization with repetitive DNA probes and its use in clinical cytogenetics.
    Clin Genet. 1991 Jul;40(1):47-56.
  17. Bettio D, Rizzi N, Giardino D, Gurrieri F, Silvestri G, Grugni G, Larizza L.
    FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients.
    Am J Med Genet. 1997 Jan 10;68(1):99-104
  18. Ledbetter DH, Mascarello JT, Riccardi VM, Harper VD, Airhart SD, Strobel RJ.
    Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.
    Am J Hum Genet. 1982 Mar;34(2):278-285.
  19. Robinson WP, Wagstaff J, Bernasconi F, Baccichetti C, Artifoni L, Franzoni E, Suslak L, Shih LY, Aviv H, Schinzel AA.
    Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.
    J Med Genet. 1993 Sep;30(9):756-760.
  20. Buchholz T, Schuffenhauer S, Evans K, Robson L, Appleton B, Smith A.
    Molecular analysis of an extra inv dup(15)(q13) chromosome in two patients with Angelman syndrome.
    Acta Genet Med Gemellol (Roma). 1996;45(1-2):217-220.
  21. Daniel A, Malafiej P, Preece K, Chia N, Nelson J, Smith M.
    Identification of marker chromosomes in thirteen patients using FISH probing.
    Am J Med Genet. 1994 Oct 15;53(1):8-18.
  22. Fleischer Michaelsen KF, Lundsteen C, Hansen FJ.
    Prader-Willi syndrome and chromosomal mosaicism 46,XY/47,XY,+mar in two cases.
    Clin Genet. 1979 Sep;16(3):147-150.
  23. Fujita H, Sakamoto Y, Hamamoto Y.
    An extra idic(15p)(q11) chromosome in Prader-Willi syndrome.
    Hum Genet. 1980;55(3):409-411.
  24. Kousseff BG, Diamond T, Essig Y, Miller K, Tedesco T.
    Unique mosaicism in Prader-Labhart-Willi syndrome--a contiguous gene or aneuploidy syndrome?
    Am J Med Genet. 1987 Dec;28(4):803-811.
  25. Brondum-Nielsen K, Mikkelsen M.
    A 10-year survey, 1980-1990, of prenatally diagnosed small supernumerary marker chromosomes, identified by FISH analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12,699 prenatal samples.
    Prenat Diagn. 1995 Jul;15(7):615-619.
  26. Li MM, Howard-Peebles PN, Killos LD, Fallon L, Listgarten E, Stanley WS.
    Characterization and clinical implications of marker chromosomes identified at prenatal diagnosis.
    Prenat Diagn. 2000 Feb;20(2):138-143.
  27. Langer S, Fauth C, Rocchi M, Murken J, Speicher MR.
    AcroM fluorescent in situ hybridization analyses of marker chromosomes.
    Hum Genet. 2001 Aug;109(2):152-158.
  28. Haddad BR, Schrock E, Meck J, Cowan J, Young H, Ferguson-Smith MA, du Manoir S, Ried T.
    Identification of de novo chromosomal markers and derivatives by spectral karyotyping.
    Hum Genet. 1998 Nov;103(5):619-625.
  29. Gravholt CH, Friedrich U.
    Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group of children.
    Am J Med Genet. 1995 Mar 13;56(1):106-111.
  30. Pierluigi M, Battaglia P, Perfumo C, Baroncini A, Bricarelli FD.
    Combined use of cytogenetic analysis and FISH for the identification of two antenatal de novo markers as Robertsonian translocations involving the p arms.
    Ann Genet. 1997;40(2):99-103.
  31. Van Opstal D, Eussen HJ, Van Hemel JO, Sachs ES.
    Application of fluorescent in situ hybridization for 'de novo' anomalies in prenatal diagnosis.
    Prenat Diagn. 1993 Sep;13(9):825-832.
  32. Plattner R, Heerema NA, Patil SR, Howard-Peebles PN, Palmer CG.
    Characterization of seven DA/DAPI-positive bisatellited marker chromosomes by in situ hybridization.
    Hum Genet. 1991 Jul;87(3):290-296.
  33. Plattner R, Heerema NA, Yurov YB, Palmer CG.
    Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes.
    Hum Genet. 1993 Mar;91(2):131-140.
  34. Plattner R, Heerema NA, Howard-Peebles PN, Miles JH, Soukup S, Palmer CG.
    Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization.
    Hum Genet. 1993 Jul;91(6):589-598.
  35. Viersbach R, Engels H, Gamerdinger U, Hansmann M.
    Delineation of supernumerary marker chromosomes in 38 patients.
    Am J Med Genet. 1998 Apr 1;76(4):351-358.
  36. Hastings RJ, Nisbet DL, Waters K, Spencer T, Chitty LS.
    Prenatal detection of extra structurally abnormal chromosomes (ESACs): new cases and a review of the literature.
    Prenat Diagn. 1999 May;19(5):436-445.
  37. de Albuquerque Coelho KE, Egashira M, Kato R, Fujimoto M, Matsumoto N, Rerkamnuaychoke B, Abe K, Harada N, Ohashi H, Fukushima Y, Niikawa N.
    Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting.
    Am J Med Genet. 1996 Jun 14;63(3):468-471.
  38. Yaron Y, Carmon E, Goldstein M, Voskoboinik N, Ochshorn Y, Gelman-Kohan Z, Orr-Urtreger A.
    The clinical application of spectral karyotyping (SKY) in the analysis of prenatally diagnosed extra structurally abnormal chromosomes (ESACs).
    Prenat Diagn. 2003 Jan;23(1):74-79.
  39. Roberts SE, Maggouta F, Thomas NS, Jacobs PA, Crolla JA.
    Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity.
    Am J Hum Genet. 2003 Nov;73(6):1061-1072.
  40. Crolla JA, Harvey JF, Sitch FL, Dennis NR.
    Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis.
    Hum Genet. 1995 Feb;95(2):161-170.
  41. Maggouta F, Roberts SE, Dennis NR, Veltman MW, Crolla JA.
    A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype.
    J Med Genet. 2003 Jul;40(7):e84.
  42. Cotter PD, Ko E, Larabell SK, Rademaker AW, Martin RH.
    Segregation of a supernumerary del(15) marker chromosome in sperm.
    Clin Genet. 2000 Dec;58(6):488-492.
  43. Levy B, Dunn TM, Kaffe S, Kardon N, Hirschhorn K.
    Clinical applications of comparative genomic hybridization.
    Genet Med. 1998 Nov-Dec;1(1):4-12.
  44. Battaglia A, Gurrieri F, Bertini E, Bellacosa A, Pomponi MG, Paravatou-Petsotas M, Mazza S, Neri G.
    The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy.
    Neurology. 1997 Apr;48(4):1081-1086.
  45. Bettio D, Giardino D, Rizzi N, Riva P, Volpi L, Barantani E, Tagliaferri A, Larizza L.
    Isochromosome 15q of maternal origin in a Prader-Willi patient with pituitary adenoma.
    Acta Genet Med Gemellol (Roma). 1996;45(1-2):213-216.
  46. Bettio D, Rizzi N, Giardino D, Grugni G, Briscioli V, Selicorni A, Carnevale F, Larizza L.
    FISH analysis in Prader-Willi and Angelman syndrome patients.
    Am J Med Genet. 1995 Mar 27;56(2):224-228.
  47. Cheng SD, Spinner NB, Zackai EH, Knoll JH.
    Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.
    Am J Hum Genet. 1994 Oct;55(4):753-759.
  48. Eggermann K, Mau UA, Bujdoso G, Koltai E, Engels H, Schubert R, Eggermann T, Raff R, Schwanitz G.
    Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases.
    Clin Genet. 2002 Jul;62(1):89-93.
  49. Gentile M, Susca F, Resta N, Stella A, Cascone A, Guanti G.
    Infertility in carriers of two bisatellited marker chromosomes.
    Clin Genet. 1993 Aug;44(2):71-75.
  50. Hou JW, Wang TR.
    Unusual features in children with inv dup(15) supernumerary marker: a study of genotype-phenotype correlation in Taiwan.
    Eur J Pediatr. 1998 Feb;157(2):122-127.
  51. Huang B, Crolla JA, Christian SL, Wolf-Ledbetter ME, Macha ME, Papenhausen PN, Ledbetter DH.
    Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes.
    Hum Genet. 1997 Jan;99(1):11-17.
  52. Knight LA, Lipson M, Mann J, Bachman R.
    Mosaic inversion duplication of chromosome 15 without phenotypic effect: occurrence in a father and daughter.
    Am J Med Genet. 1984 Mar;17(3):649-654.
  53. Kirkilionis AJ, Sergovich FR.
    Supernumary marker chromosomes in a mentally retarded population identified as inv dup(15).
    Clin Genet. 1987 Jun;31(6):425-428.
  54. Manenti E.
    Two extra inv dup(15) chromosomes and male infertility: second case.
    Am J Med Genet. 1992 Feb 1;42(3):402-403.
  55. Maraschio P, Zuffardi O, Bernardi F, Bozzola M, De Paoli C, Fonatsch C, Flatz SD, Ghersini L, Gimelli G, Loi M, Lorini R, Peretti D, Poloni L, Tonetti D, Vanni R, Zamboni G.
    Preferential maternal derivation in inv dup(15): analysis of eight new cases.
    Hum Genet. 1981;57(4):345-350.
  56. Martin-Lucas MA, Perez-Castillo A, Abrisqueta JA.
    Infertility associated with two accessory bisatellited chromosomes.
    Hum Genet. 1986 Jun;73(2):133-136.
  57. Mignon C, Malzac P, Moncla A, Depetris D, Roeckel N, Croquette MF, Mattei MG.
    Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effect.
    Eur J Hum Genet. 1996;4(2):88-100.
  58. Narahara K, Hiramoto K, Murakami M, Miyake S, Tsuji K, Yokoyama Y, Namba H, Ninomiya S, Murakami R, Seino Y.
    Unique karyotypes in two patients with Prader-Willi syndrome.
    Am J Med Genet. 1992 Mar 1;42(5):671-677.
  59. Ridler MA, Garrod O, Berg JM.
    A case of Prader-Willi syndrome in a girl with a small extra chromosome.
    Acta Paediatr Scand. 1971 Mar;60(2):222-226.
  60. Smith A, Den Dulk G, Lipson A, Suter M.
    Classical Prader-Willi syndrome with trisomy 15(pter->q12) plus de novo variant 15p11.
    Ann Genet. 1989;32(1):39-42.
  61. Spinner NB, Zackai E, Cheng SD, Knoll JH.
    Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13.
    Am J Med Genet. 1995 May 22;57(1):61-65.
  62. Stetten G, Sroka-Zaczek B, Corson VL.
    Prenatal detection of an accessory chromosome identified as an inversion duplication (15).
    Hum Genet. 1981;57(4):357-359.
  63. Webb T, Hardy CA, King M, Watkiss E, Mitchell C, Cole T.
    A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes.
    Clin Genet. 1998 Jan;53(1):34-43.
  64. Wisniewski LP, Witt ME, Ginsberg-Fellner F, Wilner J, Desnick RJ.
    Prader-Willi syndrome and a bisatellited derivative of chromosome 15.
    Clin Genet. 1980 Jul;18(1):42-47.
  65. Wisniewski LP, Doherty RA.
    Supernumerary microchromosomes identified as inverted duplications of chromosome 15: a report of three cases.
    Hum Genet. 1985;69(2):161-163.
  66. Wulfsberg EA, Sparkes RS, Klisak IJ, Gurfield WB.
    A 15 leads to 1 translocation in a patient mosaic for presence or absence of an isodic(15p)(q11).
    Am J Med Genet. 1982 Dec;13(4):417-421.
  67. Gilmore DH, Boyd E, McClure JP, Batstone P, Connor JM.
    Inv dup (15) with mental retardation but few dysmorphic features.
    J Med Genet. 1984 Jun;21(3):221-223.
  68. Goh K, Herrmann MA, Campbell RG, Thompson D.
    Abnormal chromosome in Prader-Willi syndrome.
    Clin Genet. 1984 Dec;26(6):597-601.
  69. Hoo JJ.
    High resolution pattern of an inverted duplication (15).
    Clin Genet. 1986 Mar;29(3):241-245.
  70. Lazarus AL, Moore KE, Spinner NB.
    Recurrent neuroleptic malignant syndrome associated with inv dup(15) and mental retardation.
    Clin Genet. 1991 Jan;39(1):65-67.
  71. Leana-Cox J, Jenkins L, Palmer CG, Plattner R, Sheppard L, Flejter WL, Zackowski J, Tsien F, Schwartz S.
    Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.
    Am J Hum Genet. 1994 May;54(5):748-756.
  72. Mattei JF, Mattei MG, Giraud F.
    Prader-Willi syndrome and chromosome 15. A clinical discussion of 20 cases.
    Hum Genet. 1983;64(4):356-362.
  73. Murdock RL, Wurster-Hill DH.
    Non-reciprocal translocation (5;15), isodicentric (15) and Prader-Willi syndrome.
    Am J Med Genet. 1986 Sep;25(1):61-69.
  74. Schmid M, Schindler D, Haaf T.
    Structure, origin and effects of a supernumerary marker chromosome 15.
    Clin Genet. 1986 Jul;30(1):63-71.
  75. Wahlström J, Steffenburg S, Hellgren L, Gillberg C.
    Chromosome findings in twins with early-onset autistic disorder.
    Am J Med Genet. 1989 Jan;32(1):19-21.
  76. Konstantareas MM, Homatidis S.
    Chromosomal abnormalities in a series of children with autistic disorder.
    J Autism Dev Disord. 1999 Aug;29(4):275-285.
  77. Adhvaryu SG, Peters-Brown T, Livingston E, Qumsiyeh MB.
    Familial supernumerary marker chromosome evolution through three generations.
    Prenat Diagn. 1998 Feb;18(2):178-181.
  78. Roberts S, Maggouta F, Thompson R, Price S, Thomas S.
    A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction.
    J Med Genet. 2002 Feb;39(2):E9.
  79. Thompson RJ, Bolton PF.
    Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology.
    J Autism Dev Disord. 2003 Apr;33(2):171-176.
  80. Rineer S, Finucane B, Simon EW.
    Autistic symptoms among children and young adults with isodicentric chromosome 15.
    Am J Med Genet. 1998 Sep 7;81(5):428-433.
  81. Smith A, Einfeld S.
    Isochromosome 15 with behaviour disorder.
    Hum Genet. 1986 Feb;72(2):188.
  82. Flejter WL, Bennett-Baker PE, Ghaziuddin M, McDonald M, Sheldon S, Gorski JL.
    Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation.
    Am J Med Genet. 1996 Jan 11;61(2):182-187.
  83. Schroer RJ, Phelan MC, Michaelis RC, Crawford EC, Skinner SA, Cuccaro M, Simensen RJ, Bishop J, Skinner C, Fender D, Stevenson RE.
    Autism and maternally derived aberrations of chromosome 15q.
    Am J Med Genet. 1998 Apr 1;76(4):327-336.
  84. DeFalco JE, Willey AM.
    Three cases of partial tetrasomy 15.
    Am J Med Genet. 1978; 30:77A.
  85. Hansen A, Brask BH, Nielsen J, Rasmussen K, Sillesen I.
    A case report of an autistic girl with an extra bisatellited marker chromosome.
    J Autism Child Schizophr. 1977 Sep;7(3):263-267.
  86. Hongell K, Iivanainen M.
    Partial trisomy 15 and temporal lobe syndrome in a retarded girl without gross malformations.
    Clin Genet. 1978 Oct;14(4):229-234.
  87. Baker P, Piven J, Schwartz S, Patil S.
    Brief report: duplication of chromosome 15q11-13 in two individuals with autistic disorder.
    J Autism Dev Disord. 1994 Aug;24(4):529-535.
  88. Bundey S, Hardy C, Vickers S, Kilpatrick MW, Corbett JA.
    Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia.
    Dev Med Child Neurol. 1994 Aug;36(8):736-742.
  89. Ghaziuddin M, Sheldon S, Venkataraman S, Trsui L, Ghaziuddin N.
    Autism associated with tetrasomy 15: a further report.
    Europ Child Adolesc Psychatry 1993; 2:226-230.
  90. Gillberg C, Steffenburg S, Wahlstrom J, Gillberg IC, Sjostedt A, Martinsson T, Liedgren S, Eeg-Olofsson O.
    Autism associated with marker chromosome.
    J Am Acad Child Adolesc Psychiatry. 1991 May;30(3):489-494.
  91. Hotopf M, Bolton P.
    A case of autism associated with partial tetrasomy 15.
    J Autism Dev Disord. 1995 Feb;25(1):41-49.
  92. Pfeiffer RA, Kessel E.
    Partial trisomy 15q1.
    Hum Genet. 1976 Jul 7;33(1):77-83.
  93. Power MM, Barry RG, Cannon DE, Masterson JG.
    Familial partial trisomy 15.
    Ann Genet. 1977 Sep;20(3):159-165.
  94. Rasmussen K, Nielsen J, Sillesen I, Brask BH, Saldana-Garcia P.
    A bisatellited marker chromosome in a mentally retarded girl with infantile autism.
    Hereditas. 1976;82(1):37-42.
  95. Towner J, Carvajal MV, Moscatello D, Lytle C, Galagher T, Neu RL, Lacassie Y, Lamb AN.
    Abnormal phenotype associated with an inherited and with a de novo inv dup(15) marker chromosome: Detection of euchromatic sequences using probes from the PWS/AS deletion regions.
    Am J Hum Genet 1993; 53:A612.
  96. Watson EJ, Gordon RR.
    A case of partial trisomy 15.
    J Med Genet 1977; 11:400-402.
  97. Yip MY, Mark J, Hulten M.
    Supernumerary chromosomes in six patients.
    Clin Genet. 1982 Jun;21(6):397-406.
  98. Heppell-Parton AC, Waters JJ.
    Robertsonian translocation and an extra microchromosome: independent origin identified by in situ hybridization.
    Clin Genet. 1991 Feb;39(2):93-96.
  99. Kirchhoff M, Rose H, Lundsteen C.
    High resolution comparative genomic hybridisation in clinical cytogenetics.
    J Med Genet. 2001 Nov;38(11):740-744.
  100. Milunsky JM, Wyandt HE, Milunsky A.
    Familial supernumerary chromosome and malignancy.
    Cancer Genet Cytogenet. 1996 Jul 15;89(2):170-172.
  101. Wandstrat AE, Schwartz S.
    Isolation and molecular analysis of inv dup(15) and construction of a physical map of a common breakpoint in order to elucidate their mechanism of formation.
    Chromosoma. 2000 Nov;109(7):498-505.
  102. Wandstrat AE, Leana-Cox J, Jenkins L, Schwartz S.
    Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.
    Am J Hum Genet. 1998 Apr;62(4):925-936.
  103. Kousseff BG.
    The cytogenetic controversy in the Prader-Labhart-Willi syndrome.
    Am J Med Genet. 1982 Dec;13(4):431-439.
  104. Voss R, Lerer I, Maftzir G, Sheinis M, Cohen MM.
    Partial trisomy 15 in a male with severe psychomotor retardation (48, XY, + 15q -, + mar(15)).
    Am J Med Genet. 1982 Jun;12(2):131-139.
  105. Callen DF, Eyre H, Yip MY, Freemantle J, Haan EA.
    Molecular cytogenetic and clinical studies of 42 patients with marker chromosomes.
    Am J Med Genet. 1992 Jul 1;43(4):709-715
  106. Grammatico P, Di Rosa C, Roccella M, Falcolini M, Pelliccia A, Roccella F, Del Porto G.
    Inv dup(15): contribution to the clinical definition of phenotype.
    Clin Genet. 1994 Sep;46(3):233-237.
  107. Gentile M, Susca F, Resta N, Stella A, Cascone A, Guanti G.
    Infertility in carriers of two bisatellited marker chromosomes.
    Clin Genet. 1993 Aug;44(2):71-75.
  108. Hindkjaer J, Brandt CA, Stromkjaer H, Koch J, Kolvraa S, Bolund L.
    Primed IN situ labelling (PRINS) as a rational procedure for identification of marker chromosomes using a panel of primers differentially tagging the human chromosomes.
    Clin Genet. 1996 Dec;50(6):437-441.
  109. Long FL, Duckett DP, Billam LJ, Williams DK, Crolla JA.
    Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay.
    J Med Genet. 1998 May;35(5):425-428.
  110. Blennow E, Telenius H, de Vos D, Larsson C, Henriksson P, Johansson O, Carter NP, Nordenskjold M.
    Tetrasomy 15q: two marker chromosomes with no detectable alpha-satellite DNA.
    Am J Hum Genet. 1994 May;54(5):877-883.
  111. Depinet TW, Zackowski JL, Earnshaw WC, Kaffe S, Sekhon GS, Stallard R, Sullivan BA, Vance GH, Van Dyke DL, Willard HF, Zinn AB, Schwartz S.
    Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA.
    Hum Mol Genet. 1997 Aug;6(8):1195-1204.
  112. Huang B, Ning Y, Lamb AN, Sandlin CJ, Jamehdor M, Ried T, Bartley J.
    Identification of an unusual marker chromosome by spectral karyotyping.
    Am J Med Genet. 1998 Dec 4;80(4):368-372.
  113. Cockwell AE, Davalos IP, Rivera HR, Crolla JA.
    FISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation.
    Am J Med Genet. 2001 Nov 1;103(4):289-294.
  114. Magenis RE, Overton KM, Reiss JA, Macfarlane JP, Hecht F.
    Partial trisomy 15.
    Lancet. 1972 Dec 23;2(7791):1365-1366.
  115. Van den Enden A, Verschraegen-Spae MR, Van Roy N, Decaluwe W, De Praeter C, Speleman F.
    Mosaic tetrasomy 15q25-->qter in a newborn infant with multiple anomalies.
    Am J Med Genet. 1996 Jun 14;63(3):482-485. Erratum in: Am J Med Genet 1996 Aug 23;64(3):528.
  116. Choo KH.
    Centromere DNA dynamics: latent centromeres and neocentromere formation.
    Am J Hum Genet. 1997 Dec;61(6):1225-1233.
  117. Michaelsen KF, Lundsteen C, Hansen FJ.
    Prader-Willi syndrome and chromosomal mosaicism 46,XY/47,XY,+mar in two cases.
    Clin Genet. 1979 Sep;16(3):147-150.
  118. Tuerlings JH, de France HF, Hamers A, Hordijk R, Van Hemel JO, Hansson K, Hoovers JM, Madan K, Van der Blij-Philipsen M, Gerssen-Schoorl KB, Kremer JA, Smeets DF.
    Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience.
    Eur J Hum Genet. 1998 May-Jun;6(3):194-200.
  119. Gorla N, Slavutsky I, Lisanti J, Pedrazzini E, Vanella L, Larripa I.
    Cytogenetic characterization of an extra structurally abnormal chromosome associated with severe mental retardation: inv dup (15) (q13).
    Hereditas. 1998;129(1):1-5.
  120. Martinsson T, Johannesson T, Vujic M, Sjostedt A, Steffenburg S, Gillberg C, Wahlstrom J.
    Maternal origin of inv dup(15) chromosomes in infantile autism.
    Eur Child Adolesc Psychiatry. 1996 Dec;5(4):185-192.
  121. Causio F, Gentile E, Fischetto R, Archidiacono N, Magro N.
    47,XX + mar karyotype containing genes from the azoospermia factor region. A case report.
    J Reprod Med. 2002 Jul;47(7):575-580.
  122. Rowe AG, Abrams L, Qu Y, Chen E, Cotter PD.
    Tetrasomy 15q25-->qter: cytogenetic and molecular characterization of an analphoid supernumerary marker chromosome.
    Am J Med Genet. 2000 Aug 28;93(5):393-398.
  123. Robinson WP, Binkert F, Gine R, Vazquez C, Muller W, Rosenkranz W, Schinzel A.
    Clinical and molecular analysis of five inv dup(15) patients.
    Eur J Hum Genet. 1993;1(1):37-50.
  124. Knoll JH, Nicholls RD, Magenis RE, Graham JM Jr, Lalande M, Latt SA.
    Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.
    Am J Med Genet. 1989 Feb;32(2):285-290.
  125. Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M.
    Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.
    Nature. 1989 Nov 16;342(6247):281-285.
  126. Miny P, Basaran S, Kuwertz E, Holzgreve W, Pawlowitzki IH.
    Inv dup (15): prenatal diagnosis and postnatal follow-up.
    Prenat Diagn. 1986 Jul-Aug;6(4):303-306.
  127. Hu J, McPherson E, Surti U, Hasegawa SL, Gunawardena S, Gollin SM.
    Tetrasomy 15q25.3 --> qter resulting from an analphoid supernumerary marker chromosome in a patient with multiple anomalies and bilateral Wilms tumors.
    Am J Med Genet. 2002 Nov 15;113(1):82-88.
  128. Siriwardena K, Babul R, Chitayat D, Cytrynbaum C, Dupuis L, Emanuel BS, Kennedy S, Kurahashi H, Nie G, Teebi A, Weksberg R, Winsor E, Teshima I.
    Spectral karyotyping for marker chromosomes.
    Am J Hum Genet 1999; 65(Suppl):A357.
  129. Spiegel M, Hickmann G, Senger G, Kozlowski P, Bartsch O.
    Two new cases of analphoid marker chromosomes.
    Am J Med Genet. 2003 Jan 30;116A(3):284-289.
  130. Valerio D, Aiello R, Altieri V, Antonucci F.
    [Cytogenic characterization of chromosome markers detected at amniocentesis: implications for karyotype-phenotype correlations]
    Minerva Ginecol. 1996 Sep;48(9):365-369. Italian.
  131. Abeliovich D, Dagan J, Werner M, Lerer I, Shapira Y, Meiner V.
    Simultaneous formation of inv dup(15) and dup(15q) in a girl with developmental delay: origin of the abnormal chromosomes.
    Eur J Hum Genet. 1995;3(1):49-55.
  132. Abuelo D, Mark HF, Bier JA.
    Developmental delay caused by a supernumerary chromosome, inv dup (15), identified by fluorescent in situ hybridization.
    Clin Pediatr (Phila). 1995 Apr;34(4):223-226.
  133. Kaluzewski B, Helszer Z, Constantinou M, Burkholder SW, Coutinho WG, Skorski M, Corridori L, Anderson CE, Sherwood M, Debiec-Rychter M, Jackson LG.
    Extra structurally abnormal chromosomes (ESACs)--presentation of 10 new cases.
    Med Sci Monit. 2001 May-Jun;7(3):427-434.
  134. Helszer Z, Constantinou M, Nowacka J, Plucienniczak G, Plucienniczak A, Kaluzewski B.
    Application of FISH and Q-PCR techniques in breakpoint diagnostics in three cases of marker chromosomes derived from chromosome 15.
    Med Sci Monit. 2001 May-Jun;7(3):464-470.
  135. Bingham PM, Spinner NB, Sovinsky L, Zackai EH, Chance PF.
    Infantile spasms associated with proximal duplication of chromosome 15q.
    Pediatr Neurol. 1996 Sep;15(2):163-165.
  136. Calabrese G, Stuppia L, Mingarelli R, Guanciali Franchi P, Peila R, Morizio E, Antonucci A, Palka G.
    Molecular characterization of two extra marker chromosomes detected at prenatal diagnosis.
    Ann Genet. 1994;37(3):135-138.
  137. Zannotti M, Preto A, Giovanardi PR, Dallapiccola B.
    Extra dicentric 15 pter leads to q21/22 chromosomes in five unrelated patients with a distinct syndrome of progressive psychomotor retardation, seizures, hyper-reactivity and dermatoglyphic abnormalities.
    J Ment Defic Res. 1980 Dec;24 Pt 4:235-242.
  138. Verschraegen-Spae MR, Quack B, Rousseaux S, Pison H, Messiaen L, De Paepe A, Lespinasse J.
    Application of fluorescence in situ hybridization to the identification of different marker chromosomes.
    Ann Genet. 1998;41(1):5-10.
  139. Maraschio P, Cuoco C, Gimelli G, Zuffardi O, Tiepolo L.
    Origin and clinical significance of inv dup(15).
    In: “The cytogenetics of mamalian autosomal rearrangements.” 1988; Alan R. Liss, Inc., 615-634.
  140. Tajara EH, Gagliardi ART, Varella-Garcia M.
    The Prader-Willi syndrome and mosaicism of an extra chromosome.
    Rev Brasil Genet 1982; 5: 209-216.
  141. Woo HY, Cho HJ, Kong SY, Kim HJ, Jeon HB, Kim EC, Park H, Kim YJ, Kim SH.
    Marker chromosomes in korean patients: incidence, identification and diagnostic approach.
    J Korean Med Sci. 2003 Dec;18(6):773-778.
  142. Schinzel A.
    Particular behavioral symptomatology in patients with rarer autosomal chromosome aberrations.
    In: Scmid W, Nielsen J (eds): 1981; „Human Behavior and genetics“. Amsterdam: Elsevier/North Holland. 195-210.
  143. Hou JW, Liu CH, Wang TR.
    Molecular cytogenetic studies of children with marker chromosomes.
    J Formos Med Assoc. 1994 Mar;93(3):205-209.
  144. Amor DJ, Choo KH.
    Neocentromeres: role in human disease, evolution, and centromere study.
    Am J Hum Genet. 2002 Oct;71(4):695-714.
  145. Shaffer LG, Agan N, Goldberg JD, Ledbetter DH, Longshore JW, Cassidy SB.
    American College of Medical Genetics statement of diagnostic testing for uniparental disomy.
    Genet Med. 2001 May-Jun;3(3):206-211.
  146. Santolaya-Forgas J, De Leon J, Powell WC, Tonk V.
    Prenatal diagnosis of 47,XX,der(15)t(15;16)(q13;p13.2).
    Prenat Diagn. 2004 Mar;24(3):209-212.
  147. Borelina D, Esperante S, Gutnisky V, Ferreiro V, Ferrer M, Giliberto F, Frechtel G, Francipane L, Szijan I.
    Supernumerary marker 15 chromosome in a patient with Prader-Willi syndrome.
    Clin Genet. 2004 Mar;65(3):242-243.
  148. Shim SH, Pan A, Huang XL, Tonk VS, Varma SK, Milunsky JM, Wyandt HE.
    FISH Variants with D15Z1.
    J Assoc Genet Technol. 2003;29(4):146-151.
  149. Huang B, Bartley J.
    Partial hexasomy of chromosome 15.
    Am J Med Genet. 2003; 121A(3):277-280.
  150. Shim SH, Lee CH, Park YJ, Lee HJ, Park WI, Cho YH.
    Two inv dup(15) chromosomes in a woman with repeated abortions.
    Am J Med Genet. 2001; 104(4):303-306.
  151. Akahoshi K, Spritz RA, Fukai K, Mitsui N, Matsushima K, Ohashi H.
    Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia.
    Am J Med Genet. 2004; 126A(3):290-292.
  152. Werner M, Ben-Neriah Z, Silverstein S, Lerer I, Dagan Y, Abeliovich D.
    A patient with Prader-Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomy.
    Am J Med Genet. 2004 Aug 30;129A(2):176-179.
  153. Lin CC, Li YC, Hsieh LJ, Chen CP, Ko TM, Tzeng CC, Yang ML, Fang JS, Li MS, Tzeng LS, Pan YJ, Lin SK, Tsai FJ
    A referral center for prenatal FISH study in Taiwan-first year experience.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 194 (Abstractnumber 991).
  154. Kwasnicka DA, Roberts W, Li ML, Russell S, Choufani S, Scherer S
    Characterization of maternally derived aberration of chromosome 15q in a patient with autism.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 189 (Abstractnumber 962).
  155. Tepperberg JH, Waters H, Gadi I, Griffin S, Wisniewski L, Papenhausen PR
    Dual structural alterations in a case with angelman syndrome.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 185 (Abstractnumber 940).
  156. Patil S, Westin E, Frantz R, Ashley E, Piven J, Sheffield V, Wassink T
    Molecular cytogenetic and CGH-array studies in patients with autistic disorder.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 181 (Abstractnumber 917).
  157. Reish O, Gobazov R, Roseblat M, Libman V, Mashevich M
    Prenatally Detected Extra Structurally Abnormal Chromosome: The Dilemma of Genetic Counseling.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 183 (Abstractnumber 924).
  158. Flodman P, Modahl C, Mays L, Filipek PA, Bocian ME, Hanouni M, Spence MA, Smith M.
    Supernumerary 15q inverted duplication associated with interstitial chromosome 15q duplication.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 176 (Abstractnumber 883).
  159. Jeng L, Eichenmiller M, Wandstrat A, Schwartz S.
    Molecular analysis of an inv dup(15) demonstrating localization and sequence of the precise breakpoint region and suggestion of the underlying mechanism.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 178 (Abstractnumber 894).
  160. Choy YS, Ruziana A, Tan SK, Ngu LH, Keng WT, Hussain IHM
    Hypomelanosis of Ito associated with de novo Extra Structurally Abnormal Chromosomes.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 147 (Abstractnumber 717).
  161. Chen CP, Lin CC, Li YC, Chern SR, Lee CC, Chen WL, Lee MS, Wang W, Tzen CY.
    Clinical, cytogenetic, and molecular analyses of prenatally diagnosed mosaic tetrasomy for distal chromosome 15q and review of the literature.
    Prenat Diagn. 2004 Oct;24(10):767-773.
  162. van den Berg C, Van Opstal D, Brandenburg H, Wildschut HI, den Hollander NS, Pijpers L, Jan H Galjaard R, Los FJ.
    Accuracy of abnormal karyotypes after the analysis of both short- and long-term culture of chorionic villi.
    Prenat Diagn. 2000;20:956-969.
  163. Peschka B, Leygraaf J, Van der Ven K, Montag M, Schartmann B, Schubert R, van der Ven H, Schwanitz G.
    Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection.
    Hum Reprod. 1999;14(9):2257-2263.
  164. Wang YM, Chuang L, Wang BT, Kuo PL.
    Maternal uniparental disomy in a patient with Prader-Willi syndrome with an additional small inv dup(15) chromosome.
    J Formos Med Assoc. 2004;103(12):943-947.
  165. Mann SM, Wang NJ, Liu DH, Wang L, Schultz RA, Dorrani N, Sigman M, Schanen NC.
    Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy.
    Hum Genet. 2004; 115:104-111.
  166. Ventura M, Mudge JM, Palumbo V, Burn S, Blennow E, Pierluigi M, Giorda R, Zuffardi O, Archidiacono N, Jackson MS, Rocchi M.
    Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25.
    Genome Res. 2003 Sep;13(9):2059-2068.
  167. Warburton PE.
    Chromosomal dynamics of human neocentromere formation.
    Chromosome Res. 2004;12(6):617-626.
  168. Liehr T, Brude E, Gillessen-Kaesbach G, König R, Mrasek K, von Eggeling F, Starke H.
    Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15 - case report plus review of similar cases.
    Europ J Med Gen. 2005; 48:175-181.
  169. Dracou C, Salavoura K, Drakonaki S, Sofocleous C, Kolialexi A, Mavrou A.
    Arthritis in two children with chromosomal abnromalities.
    Europ J Hum Gen. 2005; 13 Supp. 1:123 (Abstractno: P0203).
  170. Polityko AD, Rumyantseva NV, Starke H, Liehr T.
    Small supernumerary marker chromosomes characterized by multicolor FISH techniques: database of Belarusian National Registry of Chromosomal Abnormalities.
    Europ J Hum Genet 2005; 13 Suppl. 1:141-142 (Abstractno. P0289)
  171. Helmy NA, Mohamed A, Kamel AK, Ismail SI, El Ruby MO, Shehab MI.
    Molecular cytogenetic analysis of inv dup(15) chromosomes observed in two patients with different clinical manifestations. 
    Europ J Hum Genet 2005; 13 Suppl. 1:144 (Abstractno. P0300)
  172. Mahjoubi F, Peters G, Daneil A, Hill R.
    A new class of chromosome lacking centromere discovered during prenatal diagnosis and characterized via chromosome microdissection and FISH 
    Europ J Hum Genet 2005; 13 Suppl. 1:169 (Abstractno. P0416)
  173. Mahjoubi F, Peters GB, Malafiej P, Shalhoub C, Turner A, Daniel A, Hill RJ.
    An analphoid marker chromosome inv dup(15)(q26.1qter), detected during prenatal diagnosis and characterized via chromosome microdissection.
    Cytogenet Genome Res. 2005;109(4):485-490.
  174. Joseph K, Avallone J, Difazio M.
    Paroxysmal tonic upgaze and partial tetrasomy of chromosome 15: a novel genetic association.
    J Child Neurol. 2005 Feb;20(2):165-168
  175. Constantinou M, Zajac E, Plowas I, Kaluzewski B.
    Two new cases of neocentric marker chromosomes (NMCs). Molecular cytogenetic and clinical characterization.
    Chromosome Res 2005; 13 suppl. 1: 66 (Abstractnr. 1.120-P)
  176. Kolialexi A, Sofocleous C, Fryssira H, Kitsiou S, Mavrou A.
    Supernumerary marker chromosomes der(15)mat without features of Prader Willi/Angelman syndrome.
    Chromosome Res 2005; 13 suppl. 1: 66 (Abstractnr. 1.121-P)
  177. Mahjoubi F.
    A new class of chromosomes lacking centromere discovered during prenatal diagnosis and characterized via chromosome micordissection and FISH.
    Chromosome Res 2005; 13 suppl. 1: 200 (Abstractnr. 13.4-P)
  178. Kocarek E, Novotna D, Marikova T, Cernakova I, Losan F, Balicek P, Baxova A, Havlovicova M, Goetz P.
    [Case reports of patients with a marker chromosome]
    Cas Lek Cesk. 2004;143(10):708-711; discussion 711-712.
  179. Battaglia A.
    The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder.
    Brain Dev. 2005 Aug;27(5):365-369.
  180. Bartsch O, Loitzsch A, Kozlowski P, Mazauric ML, Hickmann G.
    Forty-two supernumerary marker chromosomes (SMCs) in 43 273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies.
    Eur J Hum Genet. 2005; 13(11):1192-1204.
  181. Huang XL, de Michelena M, Mark H, Harston R, Benke P, Price S, Milunsky A.
    Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.
    Clin Genet. 2005 Dec;68(6):513-519.
  182. Hansmann D, Tuschen-Hofstätter E.
    Supernumerary derivative chromosome 15 in one of two developmentally retarted twins - longitudinal study
    Abstracts of the 55th annual meeting of the American Society of Human Genetics, 25.-29. 10. 2005, p165 (Abstractno. 821)
  183. Huang X, Michelina MI, Mark HL, Marston R, Benke PJ, Price S, Milunsky A.
    Characterization of an analphoid supernumerary marker chromosome with a neocentromere derived from 15q2-->qter using high-resolution CGH and multiplex FISH analyses.
    Abstracts of the 55th annual meeting of the American Society of Human Genetics, 25.-29. 10. 2005, p173 (Abstractno. 868)
  184. Liehr T, Mrasek K, Weise A, Dufke A, Rodriguez L, Martinez Guardia N, Sanchis A, Vermeesch JR, Ramel C, Polityko A, Haas OA, Anderson J, Claussen U, von Eggeling F, Starke H.
    Small supernumerary marker chromosomes--progress towards a genotype-phenotype correlation.
    Cytogenet Genome Res. 2006;112(1-2):23-34
  185. Belloso JM, Caballin MR, Gabau E, Baena N, Vidal R, Villatoro S, Guitart M.
    Characterization of six marker chromosomes by comparative genomic hybridization.
    Am J Med Genet A. 2005;136:169-174.
  186. Vulcani-Freitas TM, Gil-da-Silva-Lopes VL, Varella-Garcia M, Maciel-Guerra AT.
    Infertility and marker chromosomes: Application of molecular cytogenetic techniques in a case of inv dup(15).
    J Appl Genet. 2006;47(1):89-91.
  187. Valente KD, Freitas A, Fridman C, Varela M, Silva AE, Fett AC, Koiffmann CP.
    Inv dup (15): Is the electroclinical phenotype helpful for this challenging clinical diagnosis?
    Clin Neurophysiol. 2006 Apr;117(4):803-809.
  188. Estecio M, Fett-Conte AC, Varella-Garcia M, Fridman C, Silva AE.
    Molecular and cytogenetic analyses on Brazilian youths with pervasive developmental disorders.
    J Autism Dev Disord. 2002 Feb;32(1):35-41.
  189. Buoni S, Sorrentino L, Farnetani MA, Pucci L, Fois A.
    The syndrome of inv dup (15): clinical, electroencephalographic, and imaging findings.
    J Child Neurol. 2000 Jun;15(6):380-538.
  190. Cabrera JC, Marti M, Toledo L, Gine R, Vazquez C.
    [West's syndrome associated with inversion duplication of chromosome 15]
    Rev Neurol. 1998 Jan;26(149):77-79. Spanish.
  191. Elia M, Guerrini R, Musumeci SA, Bonanni P, Gambardella A, Aguglia U.
    Myoclonic absence-like seizures and chromosome abnormality syndromes.
    Epilepsia. 1998 Jun;39(6):660-663.
  192. Aguglia U, Le Piane E, Gambardella A, Messina D, Russo C, Sirchia SM, Porta G, Quattrone A.
    Emotion-induced myoclonic absence-like seizures in a patient with inv-dup(15) syndrome: a clinical, EEG, and molecular genetic study.
    Epilepsia. 1999 Sep;40(9):1316-1319.
  193. Chifari R, Guerrini R, Pierluigi M, Cavani S, Sgro V, Elia M, Canger R, Canevini MP.
    Mild generalized epilepsy and developmental disorder associated with large inv dup(15).
    Epilepsia. 2002 Sep;43(9):1096-1100.
  194. Kobayashi Y, Yoshino A.
    [A case of inv dup (15) mosaic with mental retardation and symptomatic generalized epilepsy]
    No To Shinkei. 1999 Mar;51(3):259-262. Japanese.
  195. Takeda Y, Baba A, Nakamura F, Ito M, Honma H, Koyama T.
    Symptomatic generalized epilepsy associated with an inverted duplication of chromosome 15.
    Seizure. 2000 Mar;9(2):145-150.
  196. Borgatti R, Piccinelli P, Passoni D, Dalpra L, Miozzo M, Micheli R, Gagliardi C, Balottin U.
    Relationship between clinical and genetic features in "inverted duplicated chromosome 15" patients.
    Pediatr Neurol. 2001 Feb;24(2):111-116.
  197. Marical H, Douet-Guilbert N, Bages K, Collet M, Le Bris MJ, Morel F, De Braekeleer M.
    Second-trimester prenatal screening for trisomy 21 using biochemical markers: a 7-year experience in one cytogenetic laboratory.
    Prenat Diagn. 2006 Apr;26(4):308-312.
  198. Dennis NR, Veltman MW, Thompson R, Craig E, Bolton PF, Thomas NS.
    Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13.
    Am J Med Genet A. 2006 Mar 1;140(5):434-441.
  199. Karaman B, Aytan M, Yilmaz K, Toksoy G, Onal EP, Ghanbari A, Engur A, Kayserili H, Yuksel-Apak M, Basaran S.
    The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey.
    Eur J Med Genet. 2006 May-Jun;49(3):207-314.
  200. Winsor EJ, Van Allen MI.
    Familial marker chromosome due to 3:1 disjunction of t(9;15) in a grandparent.
    Prenat Diagn. 1989,  9(12):851-855.
  201. Shibuya Y, Tonoki H, Kajii N, Niikawa N.
    Identification of a marker chromosome as inv dup(15) by molecular analysis.
    Clin Genet. 1991 Sep;40(3):233-236.
  202. Bocian E, Jakubow-Durska K, Mazurczak T.
    Results of 1043 prenatal cytogenetic studies: retrospective study in the context of applicability of interphase FISH in prenatal diagnosis
    Ginekol Pol. 2001 Jun;72(6):449-455. Polish.
  203. Van Der Smagt JJ, Giltay JC, De Ne JJ, Slabbers GH.
    Large inv dup(15) chromosome in two generations.
    J Med Genet. 1996 Mar;33(3):261-262.
  204. Zou YS, McGrann PS, Uphoff TS, Van Dyke DL.
    A case of mosaic supernumerary ring chromosome 15 with two copies of the segment 15p11.1-q14.
    Am J Med Genet A. 2006 140A: 1663-1668.
  205. Morel F, Douet-Guilbert N, Le Bris MJ, Amice V, Le Martelot MT, Roche S, Valeri A, Derrien V, Amice J, De Braekeleer M.
    Chromosomal abnormalities in couples undergoing intracytoplasmic sperm injection. A study of 370 couples and review of the literature.
    Int J Androl. 2004 Jun;27(3):178-182. Review.
  206. Brecevic L, Michel S, Starke H, Müller K, Kosyakova N, Mrasek K, Weise A, Liehr T.
    Multicolor FISH used for the characterization of small supernumerary marker chromosomes (sSMC) in commercially available immortalized cell lines.
    Cytogenet Genome Res. 2006;114(3-4):319-324.
  207. Mattei JF, Philip N, Mattei MG, Giraud F.
    [Small supernumerary chromosomes]
    J Genet Hum. 1985 Dec;33(5):389-396. French.
  208. Cetin Z, Berker Karauzum S, Yakut S, Mihci E, Baumer A, Wey E, Tacoy S, Bagci G, Luleci G.
    M-FISH applications in clinical genetics.
    Genet Couns. 2005;16(3):257-268.
  209. Kolialexi A, Kitsiou S, Fryssira H, Sofocleous C, Kouvidi E, Tsangaris GT, Salavoura K, Mavrou A.
    Identification of autosomal supernumerary chromosome markers (SMCs) by fluorescent in situ hybridization (FISH).
    In Vivo. 2006 Jul-Aug;20(4):473-478.
  210. Huang B, Solomon S, Thangavelu M, Peters K, Bhatt S.
    Supernumerary marker chromosomes detected in 100 000 prenatal diagnoses: molecular cytogenetic studies and clinical significance.
    Prenat Diagn. 2006 Dec;26(12):1142-1150.
  211. Douet-Guilbert N, Marical H, Pinson L, Herry A, Le Bris MJ, Morel F, De Braekeleer M.
    Characterisation of supernumerary chromosomal markers: a study of 13 cases.
    Cytogenet Genome Res. 2007;116(1-2):18-23.
  212. Cockwell AE, Jacobs PA, Crolla JA.
    Distribution of the D15Z1 copy number polymorphism.
    Eur J Hum Genet. 2007;15:441-445.
  213. Mignon-Ravix C, Depetris D, Luciani JJ, Cuoco C, Krajewska-Walasek M, Missirian C, Collignon P, Delobel B, Croquette MF, Moncla A, Kroisel PM, Mattei MG.
    Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations.
    Eur J Hum Genet. 2007; 15:432-440.
  214. Paetzold U, Schwanitz G, Schubert R, van der Ven K, Montag M.
    Sperm analyses, genetic counselling and therapy in an infertile carrier of a supernumerary marker chromosome 15.
    Adv Med Sci. 2006;51:31-35.
  215. Ballif BC, Hornor SA, Sulpizio SG, Lloyd RM, Minier SL, Rorem EA, Theisen A, Bejjani BA, Shaffer LG.
    Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH.
    Genet Med. 2007 Mar;9(3):150-162.
  216. Tönnies H, Pietrzak J, Bocian E, Macdermont K, Kuechler A, Belitz B, Trautmann U, Schmidt A, Schulze B, Rodriguez L, Binkert F, Yardin C, Kosyakova N, Volleth M, Mkrtchyan H, Schreyer I, von Eggeling F, Weise A, Mrasek K, Liehr T.
    New immortalized cell lines of patients with small supernumerary marker chromosome: towards the establishment of a cell bank.
    J Histochem Cytochem. 2007 Jun;55(6):651-660.
  217. Marco I, Arranz E, Gonzalez O, Ramiro S, Blas C, Calderon M, Fernandez-Jaen A, Renedo M.
    Supernumerary marker chromosomes derived from chromosome 15.
    Europ J Hum Gen 2007, Vol 15 Suppl. 1, p114 (Abstractnr. P0362)
  218. Petrix V, Bevilacqua E, Fabretto A, Gambel Benussi D, Lezini E, Pecile V.
    A patient with Williams Beuren syndrome and inv dup(15).
    Europ J Hum Gen 2007, Vol 15 Suppl. 1, p111 (Abstractnr. P0348)
  219. Schluth C, Mattei MG, Mignon-Ravix C, Salman S, Alembik Y, Willig J, Ginglinger E, Jeandidier E.
    Intrachromosomal triplication for the distal part of chromosome 15q.
    Am J Med Genet A. 2005 Jul 15;136(2):179-184.
  220. Ouldim K, Natiq A, Jonveaux P, Sefiani A.
    Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder.
    J Biomed Biotechnol. 2007;2007(3):61538.
  221. Makoff AJ, Flomen RH.
    Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman and inv dup(15) syndromes.
    Genome Biol. 2007;8(6):R114.
  222. Mendez C, Martinez MC, Rodrigo L, Rubio C, Molla M, Landeras J.
    Reproductive options in carrier of satellited supernumerary marker chromosomes (SMCs).
    Chr Res 2007, Vol 15 Suppl. 1, p 239 (Abstractnr. 10.14-P - information from poster)
  223. Constantinou M, Kaluzewski B, Helszer Z, Zajac E, Nowacka J.
    Prenatal detection of maternal UPD15 in a new case with i(15p) by Timing Replication Test (TRT) and methylation analysis.
    J Appl Genet. 2003;44(2):209-218.
  224. Kaluzewski B, Mastalerz-Eckelsdorf A, Plowas I, Helszer Z, Constantinou M.
    The usefulness of comparative genomic hybridization (CGH) in genetics counselling process.
    Chr Res 2007, Vol 15 Suppl. 1, p 121 (Abstractnr. 1.225-P - information from poster)
  225. Constantinou M, Plowas I, Kaluzewski B.
    Trisomy of medial 15q as a result of analphoid supernumerary ring chromsome detected by CGH and FISH.
    Chr Res 2007, Vol 15 Suppl. 1, p 121 (Abstractnr. 1.226-P - information from poster)
  226. Chaabouni M, Kraoua L, Lelorch M, Chelly I, Ben Jemaa L, Ouertani I, Maazoul F, Mrad R, Chaabouni H.
    Hexasomy of the Prader-Willi/Angelman syndrome critical region in a patient with severe phenotype and Ito hypomelanosis..
    Chr Res 2007, Vol 15 Suppl. 1, p 58 (Abstractnr. 1.82-P)
  227. Ercelen,  Ebru Perim Onal, Havya Coskun Ucar, Meral Gultomruk, Gulleyla Kilic.
    A marker chromosome identified at prenatal diagnosis.
    Chr Res 2007, Vol 15 Suppl. 1, p 89-90 (Abstractnr. 1.152-P)
  228. Sanz, Sousa A, Gonzalz S.
    Small supernumerary  marker chromosomes: cytogenetic  identification, molecular characterization and correlation with the phenotype.
    Chr Res 2007, Vol 15 Suppl. 1, p 98 (Abstractnr. 1.172-P)
  229. Tan YQ, Di YF, Song YZ, Cheng DH, Li LY, Lu GX.
    Delineating a supernumerary marker chromosome by combining several cytogenetic and molecular cytogenetic techniques]
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Aug;24(4):392-396. Chinese.
  230. Bonati MT, Finelli P, Giardino D, Gottardi G, Roberts W, Larizza L.
    Trisomy 15q25.2-qter in an autistic child: genotype-phenotype correlations.
    Am J Med Genet A. 2005 Mar 1;133(2):184-188.
  231. Bolton PF, Veltman MW, Weisblatt E, Holmes JR, Thomas NS, Youings SA, Thompson RJ, Roberts SE, Dennis NR, Browne CE, Goodson S, Moore V, Brown J.
    Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders.
    Psychiatr Genet. 2004 Sep;14(3):131-137.
  232. Roberts SE, Dennis NR, Browne CE, Willatt L, Woods G, Cross I, Jacobs PA, Thomas S.
    Characterisation of interstitial duplications and triplications of chromosome 15q11-q13.
    Hum Genet. 2002 Mar;110(3):227-324.
  233. Locke DP, Segraves R, Nicholls RD, Schwartz S, Pinkel D, Albertson DG, Eichler EE.
    BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications.
    J Med Genet. 2004 Mar;41(3):175-182.
  234. Liehr T, Utine GE, Trautmann U, Rauch A, Kuechler A, Pietrak J, Bocian E, Kosyakova N, Mrasek K, Boduroglu K, Weise A, Aktas D.
    Neocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature.
    Cytogenet Genome Res. 2007;118(1):31-37.
  235. Bleoo S, Chan D, Hildebrand NJ, Leonard NJ, Bamforth JS, Vicen L, Somerville MJ.
    Screening for 15q duplications/triplications using real-time PCR.
    Abstracts 57th annual meeting of the American Society of Human Genetics, 23.-27.10.2007, p133 (Abstractno. 531 - information directly from poster).
  236. Li YC, Hsieh LJ, Chen CP, Tsai FJ, Lin CC.
    Identification of marker chromosomes using FISH-based technology and DNA polymorphic markers.
    Abstracts 57th annual meeting of the American Society of Human Genetics, 23.-27.10.2007, p320 (Abstractno. 1617 - information directly from poster).
  237. Yonath H, Bacino C, Lalani SR, Patel A, Beaudet AL, Cheung SW, Sahoo T.
    Phenotypic characterization of patients with interstitial duplications of 15q11-q13 detected by array based comparative genome hybridization (array CGH).
    Abstracts 57th annual meeting of the American Society of Human Genetics, 23.-27.10.2007, p330 (Abstractno. 1679 - information directly from poster).
  238. Loitzsch A, Bartsch O.
    Healthy 12-year-old boy with mosaic inv dup(15)(q13).
    Am J Med Genet A. 2006 Mar 15;140(6):640-643.
  239. Constantinou M, Płowás I, Kałuzewski B.
    Trisomy of medial 15q as result of an analphoid supernumerary ring chromosome detected by CGH and FISH.
    Cytogenet Genome Res. 2007;119(1-2):165-169.
  240. Wang NJ, Parokonny AS, Thatcher KN, Driscoll J, Malone BM, Dorrani N, Sigman M, Lasalle JM, Schanen NC.
    Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15.
    BMC Genet. 2008 Jan 4;9(1):2.
  241. Parokonny AS, Wang NJ, Driscoll J, Cuccaro M, Wolpert C, Malone BM, Schanen NC.
    Atypical breakpoints generating mosaic interstitial duplication and triplication of chromosome 15q11-q13.
    Am J Med Genet A. 2007;143(20):2473-2477.
  242. Wang NJ, Liu D, Parokonny AS, Schanen NC.
    High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage.
    Am J Hum Genet. 2004 Aug;75(2):267-281.
  243. Baldwin EL, May LF, Justice AN, Martin CL, Ledbetter DH.
    Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.
    Am J Hum Genet. 2008 Feb;82(2):398-410.
  244. Marshall OJ, Chueh AC, Wong LH, Choo KH.
    Neocentromeres: new insights into centromere structure, disease development, and karyotype evolution.
    Am J Hum Genet. 2008 Feb;82(2):261-182.
  245. Rubtsov NB, Karamysheva TV, Gainer TA.
    Supernumerary marker chromosomes.
    Medical Genetic 2003; 2, N.6, 248-258 (in Russian).
  246. Fantes JA, Mewborn SK, Lese CM, Hedrick J, Brown RL, Dyomin V, Chaganti RS, Christian SL, Ledbetter DH.
    Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q.
    J Med Genet. 2002 Mar;39(3):170-177.
  247. James PA, Aftimos S, Oei P.
    Partial tetrasomy 15 due to a unique inverted triplication of chromosome15q24-q26.
    Am J Med Genet A. 2004 Oct 1;130A(2):208-210.
  248. Browne CE, Dennis NR, Maher E, Long FL, Nicholson JC, Sillibourne J, Barber JC.
    Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.
    Am J Hum Genet. 1997 Dec;61(6):1342-1352.
  249. Brookwell R, Veleba A.
    Proximal 15q variant with normal phenotype in three unrelated individuals.
    Clin Genet. 1987 May;31(5):311-314.
  250. Shim SH, Pan A, Huang XL, Tonk VS, Varma SK, Milunsky JM, Wyandt HE.
    FISH variants with D15Z1.
    J Ass Genet Technol 2003; 29(4):146-151.
  251. Barber JC, Cross IE, Douglas F, Nicholson JC, Moore KJ, Browne CE.
    Neurofibromatosis pseudogene amplification underlies euchromatic cytogenetic duplications and triplications of proximal 15q.
    Hum Genet. 1998 Nov;103(5):600-607.
  252. Ritchie RJ, Mattei MG, Lalande M.
    A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications.
    Hum Mol Genet. 1998 Aug;7(8):1253-1260.
  253. Manvelyan M, Riegel M, Santos M, Fuster C, Pellestor F, Mazauric ML, Schulze B, Polityko A, Tittelbach H, Reising-Ackermann G, Belitz B, Hehr U, Kelbova C, Volleth M, Gödde E, Anderson J, Küpferling P, Köhler S, Duba HC, Dufke A, Aktas D, Martin T, Schreyer I, Ewers E, Reich D, Mrasek K, Weise A, Liehr T.
    32 new cases with small supernumerary marker chromosomes (sSMC) detected in connection with fertility problems - detailed molecular cytogenetic characterization and review of the literature.
    Int J Mol Med 2008, 21(6):705-714.
  254. Marchina E, Imperadori L, Speziani M, Omodei U, Tombesi S, Barlati S.
    Chromosome abnormalities and Yq microdeletions in infertile italian couples referred for assisted reproductive technique.
    Sex Dev. 2007;1(6):347-352.
  255. Peppink D, Douma-Kloppenburg DD, de Rooij-Askes ES, van Zoest IM, Evenhuis HM, Gille JJ, van Hagen JM.
    Feasibility and outcomes of multiplex ligation-dependent probe amplification on buccal smears as a screening method for microdeletions and duplications among 300 adults with an intellectual disability of unknown aetiology.
    J Intellect Disabil Res. 2008 Jan;52(Pt 1):59-67.
  256. Polityko AD, Lazjuk GI, Liehr T.
    High resolution molecular cytogenetic approaches and study of marker chromosomes.
    Medica Genetics 2008, 7(3):34-40. (in Russian) 
  257. Doco-Fenzy M, Crolla A, Azemar V, Motte J, Gruson N, Ulrich E, Adnet JJ.
    Supernumerary mar(15) without Prader Willi/ Angelman syndrome critical region (PWASCR) euchromatin, maternal heterodisomy and Prader Willi phenotype.
    Cytogenet Cell Genet. 1997, 56 (Abstractno. P12)
  258. Zawada M, Jarmuz M, Wojda A, Kolowska J, Mazurek M, Latos-Bielenska A.
    A cytogenetic and FISH studies of the autosome marker chromosomes.
    Cytogenet Cell Genet 77:68 (Abstractno. P60).
  259. van der Veen AY, Faber HH, Davlaar I, Leegte LK, de Jong B.
    Identification by FISH of a marker chromosome complicated by exchange of short arm sequences between chromosomes 13 and 15.
    Cytogenet Cell Genet 77:68 (Abstractno. P50).
  260. Lasan R, Letica L, Hitrec V, Muzi D, Begovic D, Wiegant J.
    Identification of three cases of chromosome rearrangements by fluorescence in situ hybridiztaion.
    Cytogenet Cell Genet 77:60 (Abstractno. P30).
  261. Dalpra L, Giardino D, Guerneri S, Nocera G, Amico FP, Briscioli V, Finelli P, Martinoli E, Sala E, Villa N, Crosti F, Chiodo F, Operti M, di Cantogno LV, Savin E, Croci G, Franchi F, Venti G, Donti E, Migliori V, Pettinari A, Bonifacio S, Centrone C, Torricelli F, Rossi S, Simi P, Granata P, Casalone R, Lenzini E, Artifoni L, Pecile V, Bellotti D, Cauffin D, Cavani S, Pierluigi M, Larizza L.
    Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories.
    Annales de Genetique 2003, 46(2-3): 233 (abstract no 7.24).
  262. Kuglik P, Vaclavik P, Oltova A, Popelinska E, Wernerova V.
    The identification of supernumerary marker chromosomes in five patients by fluorescent in situ hybridization.
    Cytogenet Cell Genet 1999, 85(1-2):39 (Abstractno: P137).
  263. Soler A, Margarit E, Gomez D, Carrio A, Costa D, Ballesta F.
    Exclusion of uniparental disomy 15 in a prenatal diagnosis of a de novo supernumerary marker chromosome 15.
    Cytogenet Cell Genet 1999, 85(1-2):59 (Abstractno: P224).
  264. Palanduz S, Ozturk S, Cefle K, Tutkan G, Karaman B, Ustek D, Urus Ali, Serakinci N, Basaran S.
    A case of mental retardation associated with a partial tetrasomy of chromosome 15.
    Cytogenet Cell Genet 1999, 85(1-2):159 (Abstractno: P672).
  265. Phelan MC, Stevenson RE, Schroer RJ.
    Doube autosomal aneuploidy: 48,XY,+inv dup(15),+18.
    Proc Greenwood Genet Center 1989; 8:33-38.
  266. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 653-655.
  267. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 655-656.
  268. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 659-663.
  269. Battaglia A.
    The inv dup (15) or idic (15) syndrome (Tetrasomy 15q).
    Orphanet J Rare Dis. 2008 Nov 19;3(1):30.
  270. Gruchy N, Lebrun M, Herlicoviez M, Alliet J, Gourdier D, Kottler ML, Mittre H, Leporrier N.
    Supernumerary marker chromosomes management in prenatal diagnosis.
    Am J Med Genet A. 2008 Nov 1;146A(21):2770-2776.
  271. Oracova E, Musilova P, Kopecna O, Rybar R, Vozdova M, Vesela K, Rubes J.
    Sperm and embryo analysis in a carrier of supernumerary inv dup(15) marker chromosome.
    J Androl. 2009 May-Jun;30(3):233-239.
  272. Tseng JJ, Chou MM, Lo FC, Lai HY, Chen MH, Ho ES.
    Prenatal diagnosis of extrastructurally abnormal chromosomes: clinical experience and literature review.
    J Chin Med Assoc. 2009 Jan;72(1):29-33.
  273. Drozniewska M, Janiszewska T, Haus O.
    Tetrasomy 15q syndrome - case report.
    Chr Res 2009, 17(Supl. 1):S82 (Abstractno: 1.111-P).
  274. Polihronis S, Wright D.
    Four year retroperspective review on mosaic prenatal samples.
    Chr Res 2009, 17(Supl. 1):S230 (Abstractno: 13.56-P).
  275. Kappou D, Sifakis S, Papadopoulu E, Konstantinidou A, Fragkidaki P, Patsalis P, Matalliotakis I, Velissariou V.
    A de novo ESAC marker chromosome derived from chromosome 15 prenatallys diagnosed in a fetus with macrocephaly and atrium aplasia.
    Chr Res 2009, 17(Supl. 1):S228 (Abstractno: 13.53-P).
  276. Largo C, Gallegos M, Avilla L, Ferrada E, Castrillo J, Avila S.
    Atypical proximal and distal rearrangements generating supernumerary derivative chromosomes.
    Chr Res 2009, 17(Supl. 1):S200 (Abstractno: 13.34-P).
  277. Kitsiou-Tzeli S, Tzetis M, Vrettou C, Frysira H, Pampanos A, Kanavakis E.
    High resolution Agitent 244K oligoarray CGH analysis in patients with MR/MCA/DD.
    Chr Res 2009, 17(Supl. 1):S191 (Abstractno: 13.17-P).
  278. Guichet A, Boisseau P, Ingster O, Guardiola P, Couteleau A, Bonneau D.
    Large inv dup(15) characterized by FISH and aCGH in a child with no abnormal phenotype at 2 years old
    Chr Res 2009, 17(Supl. 1):S178 (Abstractno: 11.4-P).
  279. Jovanović-Privrodski JD, Kavecan II, Obrenović MR, Buonadonna LA, Bukvić NM.
    Autism and hypoplastic corpus callosum in a case of monocentric marker chromosome 15.
    Pediatr Neurol. 2009 Jul;41(1):65-67.
  280. Kulikowski L, Jehee FMS, Pelegrino R, Rosolen DCB, Antonangelo L, Buratini MN, Smith MAC, Melaragno MI.
    Small Supernumerary Marker Chromosomes characterization elucidated by array techniques.
    ASHG 2009; abstract only online, information from poster.
  281. Tihy F, Oprea L, Lemyre E.
    Extra structurally abnormal chromosomes: experience of a prenatal diagnostic laboratory during 11 years.
    ASHG 2009; abstract only online, information from poster.
  282. Depienne C, Moreno-De-Luca D, Heron D, Bouteiller D, Gennetier A, Delorme R, Chaste P, Siffroi JP, Chantot-Bastaraud S, Benyahia B, Trouillard O, Nygren G, Kopp S, Johansson M, Rastam M, Burglen L, Leguern E, Verloes A, Leboyer M, Brice A, Gillberg C, Betancur C.
    Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
    Biol Psychiatry. 2009 Aug 15;66(4):349-359.
  283. Giardina E, Peconi C, Cascella R, Sinibaldi C, Nardone AM, Novelli G.
    A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15.
    Electrophoresis. 2008 Dec;29(23):4775-4779.
  284. Peng HH, Kuo PL, Chao AS, Wang TH, Chang YL, Soong YK, Chang SD.
    Discordant semilobar holoprosencephaly in monozygotic twins with de novo inv dup(15) marker chromosome and de novo mutation on SHH gene.
    Fetal Diagn Ther. 2007;22(5):389-393.
  285. Trent RJ, Volpato F, Smith A, Lindeman R, Wong MK, Warne G, Haan E.
    Molecular and cytogenetic studies of the Prader-Willi syndrome.
    J Med Genet. 1991 Oct;28(10):649-654.
  286. van den Berg-Loonen EM, Savelkoul P, van Hooff H, van Eede P, Riesewijk A, Geraedts J.
    Uniparental maternal disomy 6 in a renal transplant patient.
    Hum Immunol. 1996 Jan;45(1):46-51.
  287. Hamabe J, Fukushima Y, Harada N, Abe K, Matsuo N, Nagai T, Yoshioka A, Tonoki H, Tsukino R, Niikawa N.
    Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients.
    Am J Med Genet. 1991 Oct 1;41(1):54-63.
  288. Woodage T, Deng ZM, Prasad M, Smart R, Lindeman R, Christian SL, Ledbetter DH, Robson L, Smith A, Trent RJ.
    A variety of genetic mechanisms are associated with the Prader-Willi syndrome.
    Am J Med Genet. 1994 Sep 15;54(3):219-226.
  289. Christian SL, Mills P, Das D, Ledbetter DH.
    High risk of uniparental disomy 15 associated with amniotic fluid containing de novo small supernumerary marker 15 chromosomes.
    Am J Hum Genet. 1998, 63: A11 (abstract 52).
  290. Christian SL, Mills P, Das D, Ledbetter DH.
    High risk of uniparental disomy 15 associated with amniotic fluid containing de novo small supernumerary marker 15 chromosomes.
    Am J Hum Genet. 1998, 63: A11 (abstract 52).
  291. Ebrahim SAD, Feldman B, Knaus A, Gyi K, Mills PL, Johnson MP, Evans MI.
    Prenatal diagnosis of maternal uniparental disomy of chromsome 15 in association with de novo supernumerary marker chromosome 15.
    Am J Hum Genet. 1998, 63: A162 (abstract 916).
  292. Pacanaro AN, Christofolini DM, Kulikowski LD, Belangero SI, da Silva Bellucco FT, Varela MC, Koiffmann CP, Yoshimoto M, Squire JA, Schiavon AV, Heck B, Melaragno MI.
    A rare case of trisomy 15pter-q21.2 due to a de novo marker chromosome.
    Am J Med Genet A. 2010 Mar;152A(3):753-758.
  293. Saitoh S, Hosoki K, Takano K, Tonoki H.
    Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy.
    Clin Genet. 2007 Oct;72(4):378-380.
  294. Baumer A, Wiedemann U, Hergersberg M, Schinzel A.
    A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms.
    Hum Mutat. 2001 May;17(5):423-430.
  295. Kwasnicka-Crawford DA, Roberts W, Scherer SW.
    Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.
    J Autism Dev Disord. 2007 Apr;37(4):694-702.
  296. Jalal SM, Persons DL, Dewald GW, Lindor NM.
    Form of 15q proximal duplication appears to be a normal euchromatic variant.
    Am J Med Genet. 1994 Oct 1;52(4):495-497.
  297. Kleefstra T, de Leeuw N, Wolf R, Nillesen WM, Schobers G, Mieloo H, Willemsen M, Perrotta CS, Poddighe PJ, Feenstra I, Draaisma J, van Ravenswaaij-Arts CM.
    Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature.
    Am J Med Genet A. 2010 Sep;152A(9):2221-2229.
  298. Manolakos E, Kefalas K, Neroutsou R, Lagou M, Kosyakova N, Ewers E, Ziegler M, Weise A, Tsoplou P, Rapti S-M, Papoulidis I, Anastasakis E, Garas A, Sotiriou S, Eleftheriades M, Peitsidis P, Μalathrakis D, Thomaidis L, Kitsos G, Orru S, Liehr T, Petersen MB, Kitsiou-Tzeli S.
    Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization.
    Mol Med Rep 2010, 3:1015-1022.
  299. Hoppman-Chaney NL, Dawson DB, Nguyen L, Sengupta S, Reynolds K, McPherson E, Velagaleti G.
    Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome.
    Am J Med Genet A. 2010 Aug;152A(8):2034-2038.
  300. Van Opstal D, Boter M, Noomen P, Srebniak M, Hamers G, Galjaard RJ.
    Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis.
    Mol Cytogenet 2011; 4:2.
  301. Battaglia A, Parrini B, Tancredi R.
    The behavioral phenotype of the idic(15) syndrome.
    Am J Med Genet C Semin Med Genet. 2010 Nov 15;154C(4):448-455.
  302. Michelson M, Eden A, Vinkler C, Leshinsky-Silver E, Kremer U, Lerman-Sagie T, Lev D.
    Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother.
    Eur J Paediatr Neurol. 2011 May;15(3):230-233.
  303. Chen X, Raca G, Laffin J, Babaian KN, Williams DH.
    Chromosomal Abnormalities in Two Cases of Testicular Failure.
    J Androl. 2011 May-Jun;32(3):226-231.
  304. Ichikawa M, Okajima M, Wada T, Gokan Y, Shimakage H, Tonoki H, Saitoh S.
    Non-chromosome 15 marker chromosome in a Prader-Willi syndrome patient with uniparental disomy.
    Pediatr Int. 2006 Feb;48(1):97-9.
  305. Pérez-Iribarne MM, Català V, Pineda M, Plensa I, González V, Zabala T, Ramírez L.
    A case with a de novo supernumerary chromosomal marker identified by FISH
    Chromosome Res 2011, Vol 19 (Suppl. 1), p S43 (Abstractnr. 1.P13)
  306. Eggermann T, Gamerdinger U, Schubert R, Spengler S, Scholz M, Hansmann D, Tariverdian G, Baudis M, Schwanitz G.
    Supernumerary asymmetric dic(15;15) with secondary mosaic formation in one of two developmenatlly retarded twins.
    Ind J Hum Genet 2011, 11(2):75-82.
  307. Kraoua L, Chaabouni M, Ewers E, Chelly I, Ouertani I, Ben Jemaa L, Maazoul F, Liehr T, Chaabouni H.
    Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: Case report.
    Eur J Med Genet. 2011 Jul-Aug;54(4):e446-50.
  308. Bao L, Yang L, Yang Y, Huang Y, Li .Y
    Molecular and clinical characterizations of patients with tetrasomy and pentasomy 15q11q13.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 1265W.
  309. Paez P, Acosta J.
    Isodicentric 15q: Report of two Colombian cases.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 1285W
  310. Guediche N, Tosca L, Kara Terki A, Bas C, Lecerf L, Young J, Briand-Suleau A, Tou B, Bouligand J, Brisset S, Misrahi M, Guiochon-Mantel A, Goossens M, Tachdjian G.
    Array comparative genomic hybridization analysis of small supernumerary marker chromosomes in human infertility.
    Reprod Biomed Online. 2012 Jan;24(1):72-82.
  311. Anguiano A, Wang BT, Wang SR, Boyar FZ, Mahon LW, El Naggar MM, Kohn PH, Haddadin MH, Sulcova V, Sbeiti AH, Ayad MS, White BJ, Strom CM.
    Spectral karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory.
    Mol Cytogenet. 2012 Jan 16;5(1):3
  312. Laus AC, Baratela WA, Laureano LA, Santos SA, Huber J, Ramos ES, Rebelo CC, Squire JA, Martelli L.
    Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: case report and review of literature.
    Am J Med Genet A. 2012 Apr;158A(4):821-827.
  313. Evo C, Mafra F, Piazzon FB, Kulikowiski LD, Bianco B, Barbosa CP, Christofolini DM.
    A rare case of duplication 15q and 16p derived from an interstitial familial translocation between chromosomes 15 and 16.
    Resumos do II EPACITO - Encontro Paulista de Citogenética 22 a 24 de abril de 2012 • Ribeirão Preto • SP • Brasil
  314. Bertini V, Viola D, Vitti P, Simi P, Valetto A.
    An idic(15) associated with POF (premature ovarian failure): Molecular cytogenetic definition of a case and review of the literature.
    Gene. 2012 Jul 15;503(1):123-125.
  315. Galizia EC, Palmer R, Waters JJ, Koepp MJ, Hennekam RC, Sisodiya SM.
    The idic(15) syndrome: Expanding the phenotype.
    Am J Med Genet A. 2012 Jun;158A(6):1505-1508.
  316. Murakami N, Obata K, Sakazume S, Kido Y, Oto Y, Nagai T.
    The frequency and exact karyotypes of complex chromosomal aberrations in Prader-Willi syndrome.
    Europ J Hum Genet 20 (Suppl. 1), p 92, Abstractnr. P02.206).
  317. Ben Abdallah Bouhjar I, Hannachi H, Ben Khelifa H, Soyah N, Elghezal H, Saad A, Mougou Zerelli S.
    Molecular cytogenetic analysis of a new case of inv dup chromosome 15 syndrome.
    Europ J Hum Genet 20 (Suppl. 1), p 117, Abstractnr. P03.066).
  318. Eek AK, Strand L, Svendsen M, Clausen KO, Braathen GJ.
    De novo supernumerary dicentric marker chromosome 15 with contained Prader-Willi Angelman Critical Regions in a girl with a subtle phenotype.
    Europ J Hum Genet 20 (Suppl. 1), p 129, Abstractnr. P03.128).
  319. Zerova TE, Kononenko MI, Dariy AS, Denisenko SV.
    Application of mFISH in identification of supernumerary marker chromosome in a female with infertility.
    Europ J Hum Genet 20 (Suppl. 1), pp 137-138, Abstractnr. P04.28).
  320. Hamid AB, Kreskowski K, Weise A, Kosayakova N, Mrasek K, Voigt M, Guilherme RS, Wagner R, Hardekopf D, Pekova S, Karamysheva T, Liehr T, Klein E.
    How to narrow down chromosomal breakpoints in small and large derivative chromosomes - a new probe set.
    J Appl Genet. 2012 Aug;53(3):259-269.
  321. Levy B, Tegay D, Papenhausen P, Tepperberg J, Nahum O, Tsuchida T, Pletcher BA, Ala-Kokko L, Baker S, Frederick B, Hirschhorn K, Warburton P, Shanske A.
    Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?
    Genet Med. 2012 Sep;14(9):811-818.
  322. Tatton-Brown K, Pilz DT, Orstavik KH, Patton M, Barber JC, Collinson MN, Maloney VK, Huang S, Crolla JA, Marks K, Ormerod E, Thompson P, Nawaz Z, Lese-Martin C, Tomkins S, Waits P, Rahman N, McEntagart M.
    15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.
    Am J Med Genet A. 2009 Feb;149A(2):147-154.
  323. George-Abraham JK, Zimmerman SL, Hinton RB, Marino BS, Witte DP, Hopkin RJ.
    Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation.
    Am J Med Genet A. 2012 Aug;158A(8):1971-1976.
  324. Grosso S, Balestri P, Anichini C, Bartalini G, Pucci L, Morgese G, Berardi R.
    Pubertal disorders in inv dup(15) syndrome.
    Gynecol Endocrinol. 2001 Jun;15(3):165-169.
  325. Mennicke K, Diercks P, Schlieker H, Bals-Pratsch M, al Hasani S, Diedrich K, Schwinger E.
    Molecular cytogenetic diagnostics in sperm.
    Int J Androl. 1997;20 Suppl 3:11-19.
  326. Guilherme RS, Klein E, Venner C, Hamid AB, Bhatt S, Melaragno MI, Volleth M, Polityko A, Kulpanovich A, Kosyakova N, Liehr T.
    Human ring chromosomes and small supernumerary marker chromosomes-do they have telomeres?
    Chromosome Res. 2012 Oct;20(7):825-835.
  327. Kim JS, Park J, Min BJ, Oh SK, Choi JS, Woo MJ, Chae JH, Kim KJ, Hwang YS, Lim BC.
    A case of isodicentric chromosome 15 presented with epilepsy and developmental delay.
    Korean J Pediatr. 2012 Dec;55(12):487-490.
  328. Yang J, Yang Y, Huang Y, Hu Y, Chen X, Sun H, Lv Z, Cheng Q, Bao L.
    A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment.
    BMC Med Genet. 2013 Jan 15;14(1):9.
  329. Marle N, Martinet D, Aboura A, Joly-Helas G, Andrieux J, Flori E, Puechberty J, Vialard F, Sanlaville D, Fert Ferrer S, Bourrouillou G, Tabet A, Quilichini B, Simon-Bouy B, Bazin A, Becker M, Stora H, Amblard S, Doco-Fenzy M, Molina Gomes D, Girard-Lemaire F, Cordier M, Satre V, Schneider A, Lemeur N, Chambon P, Jacquemont S, Vigouroux-Castera A, Molignier R, Delaye A, Pipiras E, Liquier A, Rousseau T, Mosca A, Kremer V, Payet M, Rangon C, Mugneret F, Aho S, Faivre L, Callier P.
    Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.
    Clin Genet. 2014 Mar;85(3):233-244.
  330. Liehr T, Klein E, Mrasek K, Kosyakova N, Guilherme RS, Aust N, Venner C, Weise A, Hamid AB.
    Clinical impact of somatic mosaicism in cases with small supernumerary marker chromosomes.
    Cytogenet Genome Res. 2013; 139(1-2):158-163.
  331. Vazharova RV, Bradinova I, Andonova S, Bichev S, Bojinova V, Stoyanova V, Savov A, Kremensky I.
    Characterization of supernumerary marker chromosomes by high resolution array CGH
    Europ J Hum Genet 2013, Vol. 21 Suppl 2, pp 178-179 (Abstractnr. P05.097).
  332. Zolotukhina TV, Shilova NV, Judina EV, Minzhenkova ME, Kozlova YO.
    Small supernumerary marker chromosomes (sSMC) detected prenatally.
    Europ J Hum Genet 2013, Vol. 21 Suppl 2, p 592 (Abstractnr. J19.50).
  333. Shilova NV, Minzhenkova ME, Markova ZG, Kozlova YO, Antonenko VG, Tsvetkova TG, Zolotukhina TV.
    Characterization of 42 small supernumerary marker chromosomes by FISH methods.
    Europ J Hum Genet 2013, Vol. 21 Suppl 2, p 603 (Abstractnr. J20.07).
  334. Tesner P, Vlčková M, Drábová J, Zimanová V, Kočárek E.
    Characterisation of de novo dicentric supernumerary marker chromosome 15 (Prader-Willi / Angelman critical region included) in a boy with subtle phenotype.
    Europ J Hum Genet 2013, Vol. 21 Suppl 2, pp 186-187 (Abstractnr. P05.128).
  335. Liehr T, Cirkovic S, Lalic T, Guc-Scekic M, de Almeida C, Weimer J, Iourov I, Melaragno MI, Guilherme RS, Stefanou EG, Aktas D, Kreskowski K, Klein E, Ziegler M, Kosyakova N, Volleth M, Hamid AB.
    Complex small supernumerary marker chromosomes - an update.
    Mol Cytogenet. 2013 Oct 31;6(1):46.
  336. Castronovo C, Valtorta E, Crippa M, Tedoldi S, Romitti L, Amione MC, Guerneri S, Rusconi D, Ballarati L, Milani D, Grosso E, Cavalli P, Giardino D, Bonati MT, Larizza L, Finelli P.
    Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.
    Mol Cytogenet. 2013 Oct 30;6(1):45.
  337. Tu X, Cong X, Zeng J, Zheng D, Yan A, Lin Y, Qiu L, Zhang M, Zhong F, Lan F.
    [Analysis of small supernumerary marker chromosome 15q11 in four infertile males].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013, 30(5):539-543. Chinese.
  338. Wang JC, Vaccarello-Cruz M, Ross L, Owen R, Pratt VM, Lightman K, Liu Y, Hafezi K, Cherif D, Sahoo T.
    Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype.
    Am J Med Genet A. 2013 Jul;161A(7):1695-701.
  339. Park JP, Moeschler JB, Hani VH, Hawk AB, Belloni DR, Noll WW, Mohandas TK.
    Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).
    Am J Med Genet. 1998 Jun 30;78(2):134-139.
  340. Sheth FJ, Liehr T, Kumari P, Akinde R, Sheth HJ, Sheth JJ.
    Chromosomal abnormalities in couples with repeated fetal loss: an Indian retrospective study.
    Indian J Hum Genet 2013, 19: 415-422.
  341. Al Ageeli E, Drunat S, Delanoë C, Perrin L, Baumann C, Capri Y, Fabre-Teste J, Aboura A, Dupont C, Auvin S, El Khattabi L, Chantereau D, Moncla A, Tabet AC, Verloes A.
    Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases.
    Eur J Med Genet. 2014 Jan;57(1):5-14.
  342. Park DH, Lim S, Park ES, Sim EG.
    A nine-month-old boy with isodicentric chromosome 15: a case report.
    Ann Rehabil Med. 2013 Apr;37(2):291-294.
  343. Robberecht C, Voet T, Utine GE, Schinzel A, de Leeuw N, Fryns JP, Vermeesch J.
    Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism.
    Mol Cytogenet. 2012 Apr 10;5:19.
  344. Malvestiti F, De Toffol S, Grimi B, Chinetti S, Marcato L, Agrati C, Di Meco AM, Frascoli G, Trotta A, Malvestiti B, Ruggeri A, Dulcetti F, Maggi F, Simoni G, Grati FR.
    De novo small supernumerary marker chromosomes detected on 143000 consecutive prenatal diagnoses: chromosomal distribution, frequencies and characterization combining molecular-cytogenetics approaches.
    Prenat Diagn. 2014 May;34(5):460-468.
  345. Bruining H, Eijkemans MJ, Kas MJ, Curran SR, Vorstman JA, Bolton PF.
    Behavioral signatures related to genetic disorders in autism.
    Mol Autism. 2014 Feb 11;5(1):11.
  346. Al Ageeli E.I, Drunat S, Delanoe C, Perrin L, Baumann C, Capri Y, Fabre-Teste J, Aboura A, Dupont C, El Khattabi L, Chantereau D, Gallard J, Tabet A, Verloes A.
    Clinical and genetic: A study of 30 new cases with duplication of 15q11-q13 region
    Europ J Hum Genet 2014: 21(Suppl 2):167-168 (Abstractnr. P05.051).
  347. Vazharova RV, Bradinova I, Andonova S, Bichev S, Bojinova V, Stoyanova V, Savov A, Kremensky I.
    Characterization of supernumerary marker chromosomes by high resolution array CGH
    Europ J Hum Genet 2014: 21(Suppl 2):178-179 (Abstractnr. P05.097).
  348. Tesner P, Vlčková M, Drábová J, Zimanová V, Kočárek E.
    Characterisation of de novo dicentric supernumerary marker chromosome 15 (Prader-Willi / Angelman critical region included) in a boy with subtle phenotype.
    Europ J Hum Genet 2014: 21(Suppl 2):186 (Abstractnr. P05.128).
  349. Zolotukhina TV, Shilova NV, Judina EV, Minzhenkova ME, Kozlova YO.
    Small supernumerary marker chromosomes (sSMC) detected prenatally.
    Europ J Hum Genet 2014: 21(Suppl 2):592 (Abstractnr. J19.50).
  350. Christofolini DM, Piazzon FB, Evo C, Mafra FA, Cosenza SR, Dias AT, Barbosa CP, Bianco B, Kulikowski LD.
    Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications.
    Mol Cytogenet. 2014 Apr 24;7:29.
  351. Xu H, Xiao B, Ji X, Hu Q, Chen Y, Qiu W.
    Nonmosaic tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with characteristic facial appearance and review of the literature.
    Eur J Med Genet. 2014 Jul;57(7):329-333.
  352. Chen CP, Chen M, Su YN, Chern SR, Wu PS, Chang SP, Kuo YL, Chen WL, Wang W.
    Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 15.
    Taiwan J Obstet Gynecol    . 2014 Mar;53(1):129-132.
  353. Tan ES, Yong MH, Lim EC, Li ZH, Brett MS, Tan EC.
    Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.
    Mol Cytogenet. 2014 May 16;7:32.
  354. Wang JC, Ross L, Mahon LW, Owen R, Hemmat M, Wang BT, El Naggar M, Kopita KA, Randolph LM, Chase JM, Matas Aguilera MJ, Siles JL, Church JA, Hauser N, Shen JJ, Jones MC, Wierenga KJ, Jiang Z, Haddadin M, Boyar FZ, Anguiano A, Strom CM, Sahoo T.
    Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.
    Eur J Hum Genet. 2015 May;23(5):663-671.
  355. Aypar U, Brodersen PR, Lundquist PA, Dawson DB, Thorland EC, Hoppman N.
    Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region.
    Am J Med Genet A. 2014 Oct;164(10):2514-2520.
  356. Yakut S, Cetın Z, Sımşek M, Mendıcıoğlu II, Toru HS, Karaüzüm SB, Lülecı G.
    Rare structural chromosomal abnormalities in prenatal diagnosis; clinical and cytogenetic findings on 10125 prenatal cases.
    Turk Patoloji Derg    . 2015;31(1):36-44.
  357. A. Battaglia, T. Filippi.
    Idic(15) syndrome: clinical studies of 32 new individuals.
    Abstracts of the 64th annual meeting of the American Society of Human Genetics, 18.-22. 10. 2014, p651 (Abstractno. 2618S)
  358. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.
  359. Karamysheva T, Kosyakova N, Guediche N, Liehr T.
    Small supernumerary marker chromosomes and the nuclear architecture of sperm - a study in a fertile and an infertile brother.
    Syst Biol Reprod Med. 2015 Jan;61(1):32-36.
  360. Yokoyama-Rebollar E, Ruiz-Herrera A, Lieberman-Hernández E, Del Castillo-Ruiz V, Sánchez-Sandoval S, Ávila-Flores SM, Castrillo JL.
    Angelman syndrome due to familial translocation: unexpected additional results characterized by microarray-based comparative genomic hybridization.
    Mol Cytogenet. 2015 Apr 9;8:27.
  361. Szabo A, Czako M, Hadzsiev K, Duga B, Komlosi K, Melegh B.
    Partial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype.
    Mol Cytogenet. 2015 Jun 25;8:41.
  362. Oprea L, Grigore S, Mantescu O, Malageanu M, Radoi V.
    Case report: small supernumerary marker chromosome 15, cause of male infertility.
    Chromosome Res 2015, 23,Suppl 1: S50 (Abstractno: 1.P33).
  363. Dimos L, Pavel A, AchimR, Nedelea F, Plaiasu V, Simion R, Stambouli D.
    Genomic imbalances identified by array CGH in cases with chromosomal mosaicism.
    Chromosome Res 2015, 23,Suppl 1: S71 (Abstractno: 1.P73).
  364. Melo BC, Portocarrero A, Alves C, Sampaio A, Mota-Vieira L.
    Paternal transmission of small supernumerary marker chromosome 15 identified in prenatal diagnosis due to advanced maternal age.
    Clin Med Insights Case Rep. 2015 Oct 26;8:93-96.
  365. Olszewska M, Wanowska E, Kishore A, Huleyuk N, Georgiadis AP, Yatsenko AN, Mikula M, Zastavna D, Wiland E, Kurpisz M.
    Genetic dosage and position effect of small supernumerary marker chromosome (sSMC) in human sperm nuclei in infertile male patient.
    Sci Rep    . 2015 Nov 30;5:17408.
  366. Wang Q, Wu W, Xu Z, Luo F, Zhou Q, Li P, Xie J.
    Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature.
    Mol Cytogenet. 2015 Dec 21;8:97.
  367. Morsberger L, Powell K, Ning Y.
    A marker chromosome in post-transplant bone marrow.
    Mol Cytogenet. 2016 Jun 1;9:42.
  368. Hu YA, Cui Y, Fan X, Wu Q, Li W, Wang W.
    Prenatal diagnosis and genetic counseling in a fetus associated with risk of Angelman syndrome with a small supernumerary marker chromosome derived from chromosome 22.
    Mol Cytogenet. 2016 May 3;9:37.
  369. Jang W, Chae H, Kim J, Son JO, Kim SC, Koo BK, Kim M, Kim Y, Park IY, Sung IK.
    Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization.
    Mol Cytogenet. 2016 Aug 8;9:61.
  370. Battaglia A, Bernardini L, Torrente I, Novelli A, Scarselli G.
    Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome.
    Am J Med Genet A. 2016 Oct;170(10):2531-9.
  371. Chen CP, Lin SP, Chern SR, Wu PS, Chen YN, Chen SW, Lee CC, Town DD, Yang CW, Wang W.
    Molecular cytogenetic characterization of an inv dup(15) chromosome presenting as a small supernumerary marker chromosome associated with the inv dup(15) syndrome.
    Taiwan J Obstet Gynecol. 2016 Oct;55(5):728-732.
  372. Zhong F, Lan F, Zhang X, Lin Y, Lin Y, Yan A, Tu X.
    [Phenotypic and genetic analysis of an inv dup(15) case with a BP3:BP3 rearrangement].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Jun 10;34(3):402-405. doi: 10.3760/cma.j.issn.1003-9406.2017.03.020. Chinese.
  373. Szabó A, Czakó M, Hadzsiev K, Duga B, Bánfai Z, Komlósi K, Melegh B.
    Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene.
    Am J Med Genet A. 2017 Dec 11. doi: 10.1002/ajmg.a.38566. [Epub ahead of print]
  374. Sun M, Zhang H, Li G, Guy CJ, Wang X, Lu X, Gong F, Lee J, Hassed S, Li S.
    Molecular characterization of 20 small supernumerary marker chromosome cases using array comparative genomic hybridization and fluorescence in situ hybridization.
    Sci Rep. 2017 Sep 4;7(1):10395.
  375. Li H, Du J, Li W, Cheng D, He W, Yi D, Xiong B, Yuan S, Tu C, Meng L, Luo A, Lin G, Lu G, Tan YQ.
    Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature.
    Mol Cytogenet. 2018 Feb 5;11:15.
  376. Wang W, Hu C, Bi X, Yuan H.
    [Analysis of 10 patients with duplications of 15q11q13 region and autism features].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi    . 2018 Feb 10;35(1):23-28. Chinese.
  377. Makunin AI, Rajičić M, Karamysheva TV, Romanenko SA, Druzhkova AS, Blagojević J, Vujošević M, Rubtsov NB, Graphodatsky AS, Trifonov VA.
    Low-pass single-chromosome sequencing of human small supernumerary marker chromosomes (sSMCs) and Apodemus B chromosomes.
    Chromosoma. 2018 Sep;127(3):301-311. 
  378. Isobe K, Matsumoto H, Tamura Y, Hashimoto J, Matsubara K, Nonoyama S.
    Infantile spasms in a mosaic monocentric and duplicated SMC 15 patient.
    Brain Dev. 2018 Nov;40(10):891-896.
  379. Quinonez SC, Gelehrter TD, Uhlmann WR.
    A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15.
    Am J Med Genet A. 2017 Jan;173(1):268-273.
  380. Boxill M, Becher N, Sunde L, Thelle T.
    Choroid plexus hyperplasia and chromosome 9p gains.
    Am J Med Genet A. 2018 Jun;176(6):1416-1422.
  381. Hase Y, Kemekura N, Nitta Y, Fujisawa T.
    [Anesthetic management of a patient with 15q tetrasomy for dental treatment].
    Rev Bras Anestesiol. 2018 Jul - Aug;68(4):392-395.
  382. Gardner RJ, Dockery HE, Fitzgerald PH, Parfitt RG, Romain DR, Scobie N, Shaw RL, Tumewu P, Watt AJ.
    Mosaicism with a normal cell line and an autosomal structural rearrangement.
    Med Genet    . 1994 Feb;31(2):108-14.
  383. Huang MH, Lee C, Chang JS, Wang HC, Lai HL, Chang CC, Chen TW, Li YF, Lin TT, Yang CY, Ho SP.
    Retrospectively investigating the 12-year experience of prenatal diagnosis of small supernumerary marker chromosomes through array comparative genomic hybridization.
    Taiwan J Obstet Gynecol    . 2019 Jan;58(1):139-144.
  384. Liehr T, Al-Rikabi A.
    Mosaicism: Reason for normal phenotypes in carriers of small supernumerary marker chromosomes with known adverse autcome. A systematic review.
    Front Genet    . 2019 Nov 11;10:1131.
  385. Czakó M, Till Á, Szabó A, Ripszám R, Melegh B, Hadzsiev K.
    Possible phenotypic consequences of structural differences in idic(15) in a small cohort of patients.
    Int J Mol Sci    . 2019 Oct 5;20(19). pii: E4935.
  386. Krey I, Krois-Neudenberger J, Hentschel J, Syrbe S, Polster T, Hanker B, Fiedler B, Kurlemann G, Lemke JR.
    Genotype-phenotype correlation on 45 individuals with West syndrome.
    Eur J Paediatr Neurol    . 2020 Mar;25:134-138.
  387. Kuuse K, Tammur P, Ilisson P, Jürgenson M, Muru K, Reinson K.
    Two cases of de novo small supernumerary marker chromosome (SSMC) detected postnatally by microarray. Clinical consequences.
    Abstracts of the 12th European Cytogenomics Conference 2019; 1.P14
  388. Teichmann AC, Zacher P, Siegert G, Scheduikat A, Abou Jamra R.
    Atypical 15q Duplication Syndrome and the importance of chromosome analysis.
    Abstracts of the annual meeting Weimar 2019, German Society of Human Genetics. P-CytoG-148.
  389. LLamos-Paneque A, Recalde-Baez MA, Garzón-Castro M, Montúfar S, Rivas-Iglesias C, Lamar-Segura E, Román-Naranjo M, Tambaco- Jijón N, Hernández-Iñiguez P, Mrasek K, Liehr T, Odales-Ibarra R.
    Supernumerary marker of chromosome 15 associated with paternal uniparental disomy in a case with Angelman syndrome.
    J Mol Genet Med 2019, 13: 1000439
  390. Smith KK, Boyle TA, Morgan DL, Parkin CA.
    Uniparental disomy: UK collaborative study.
    Am J Hum Genet 2001, 69 (Suppl):911.
  391. Wu DJ, Wang NJ, Driscoll J, Dorrani N, Liu D, Sigman M, Schanen NC.
    Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report.
     Mol Cytogenet. 2009 Dec 18;2:27.
  392. Raoul O, Carpentier S, Dutrillaux B, Mallet R, Lejeune J.
    [Partial trisomy of chromosome 21 by maternal translocation t(15;21) (q26.2; q21)].
    Ann Genet. 1976 Sep;19(3):187-90. French.
  393. Matsubara K, Yanagida K, Nagai T, Kagami M, Fukami M.
    De novo small supernumerary marker chromosomes arising from partial trisomy rescue.
    Front Genet. 2020 Feb 27;11:132.
  394. Sun M, Wang R, Zhang H, Jiang Y, He J, Li S, Liu R.
    Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report.
    Exp Ther Med. 2020 Apr;19(4):2927-2932.
  395. Slimani W, Jelloul A, Al-Rikabi A, Sallem A, Hasni Y, Chachia S, Ernez A, Chaieb A, Bibi M, Liehr T, Saad A, Mougou-Zerelli S.
    Small supernumerary marker chromosomes (sSMC) and male infertility: characterization of five new cases, review of the literature, and perspectives.
    J Assist Reprod Genet 2020, 37:1729-1736.
  396. Zhou L, Zheng Z, Wu L, Xu C, Wu H, Xu X, Tang S.
    Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array.
    Mol Cytogenet 2020, 13 (1):19.
  397. Lu Y, Liang Y, Ning S, Deng G, Xie Y, Song J, Zuo N, Feng C, Qin Y. 
    Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder.
    Mol Cytogenet 2020, 13(1): 21.
  398. Li T, Sang H, Chu G, Zhang Y, Qi M, Liu X, Cui W, Zhao Y.
    Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes.
    Mol Cytogenet 2020;13:30.
  399. Chen CP, Lin HY, Wang LK, Chern SR, Wu PS, Chen SW, Wu FT, Fran S, Chen YY, Town DD, Pan CW, Wang W.
    Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from inv dup(15).
    Taiwan J Obstet Gynecol. 2020 Jul;59(4):580-585. 
  400. Joshi A, Lall M, Agarwal S, Paliwal P, Saviour P, Mahajan S, Puri R, Bijarnia S, Verma I.
    Molecular characterization of supernumerary marker chromosomes found as unexpected chromosome abnormalities in nine prenatal and nine postnatal samples.
    Obstet Gynecol Int J. 2019;10(3):211‒221.
  401. Gabrielli I, Bizzoco D, Mesoraca A, Cignini P, Giorlandino C.
    A case report of a meiotic segregation study on a small supernumerary marker chromosome.
    J Prenat Med 2007; 1(3):41-4.
  402. Kim DS, Park SH, Shim SH, Kim DK, Lyu SW, Kim JW, Lee WS, Song SH.
    Characterization and association of marker chromosomes with male infertility.
    J  Mens Health Vol 16(3):e11-e18.
  403. Jeevan Kumar M, Gowrishankar K, Hemagowri V, Kadandale J.
    A de novo marker chromosome 15 in a child with isolated developmental delay.
    J Genet. 2020;99:72.
  404. Sun ML, Zhang HG, Liu XY, Yue FG, Jiang YT, Li SB, Liu RZ.
    Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) inherited from her mosaic sSMC(15) mother and a literature review.
    Taiwan J Obstet Gynecol. 2020 Nov;59(6):963-967.
  405. Koç A, Onur SÖ, Ergün MA, Perçin EF.
    Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity.
    Asian Journal of Andrology 2009, 11(5):617-622
  406. Dimassi S, Mougou S, Mehri S, Elghezal H, Saad A.
    Supernumerary marker chromosome: A study about 47 perinatal cases.
    Early Human Development 2010, 86: S95-S96 (abstract PP-195).
  407. Li W, Fang R, Shen X, Yao J, Xue J, Shen G.
    [Prenatal diagnosis of three fetuses with small supernumerary marker chromosomes].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Dec 10;37(12):1344-1348. 
  408. Minzhenkova M, Markova Z, Shilova N.
    Five cases of constitutional neocentric supernumerary marker chromosomes.
    ECA-Newsletter 2021, 48, pp29-30. Poster 3.P8.
  409. Yurchenko D, Minzhenkova M, Markova Z, Tarlycheva A, Shilova N.
    Using FISH for characterization in detail of small supernumerary marker chromosomes in patients without phenotypic features.
    ECA-Newsletter 2021, 48, pp    42-43. Poster 3.P36.
  410. Markova Z, Minzhenkova M, Tarlicheva A, Shilova N.
    Characterization of small supernumerary marker chromosomes in individuals without phenotypic abnormalities.
    ECA-Newsletter 2021, 48, p39. Poster 3.P29.
  411. Lemskaya NA, Romanenko SA, Rezakova MA, Filimonova EA, Prokopov DY, Dolskiy AA, Perelman PL, Maksimova YV, Shorina AR, Yudkin DV.
    A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study.
    Mol Cytogenet. 2021 Oct 4;14(1):47.
  412. Kausch K, Haaf T, Schmid M.
    Duplication 8q24.2----qter and 15q14----pter resulting from a 3:1 meiotic segregation of a maternal reciprocal translocation.
    Am J Med Genet. 1988 Dec;31(4):981-5.
  413. Shao M, Wang Y, Zhao N, Liu P.
    [Genetic analysis of a case with mosaicism of a small supernumerary marker chromosome derived from idic(15)].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jan 10;39(1):85-88. Chinese.
  414. Chen CP, Chen M, Ma GC, Chang SP, Chern SR, Chen SW, Wu FT, Lee MS, Wang W.
    Molecular cytogenetic characterization of a de novo small supernumerary marker chromosome derived from chromosome 15 in a pregnancy with incidental detection of a maternal Robertsonian translocation of 45,XX,der(13;14) (q10;q10).
    Taiwan J Obstet Gynecol. 2022 Jan;61(1):132-134.
  415. Receveur A, Puisney-Dakhli C, Kleinfinger P, Gitz L, Grevoul-Fesquet J, Jouni D, Diot R, Tachdjian G, Petit F.
    First prenatal case of Kagami-Ogata syndrome associated with a small supernumerary marker chromosome derived from chromosome 15.
    Taiwan J Obstet Gynecol. 2022 Mar;61(2):382-384.
  416. El Fekih S, Gueganic N, Tous C, Douet-Guilbert N, Blesson S, Morel F, Perrin A.
    Meiotic segregation of an isodicentric derived from chromosome 15 in sperm of a patient with mosaic karyotype: Case report and review of the literature.
    Cytogenet Genome Res. 2022;162(1-2):34-39.
  417. Schlade-Bartusiak K, Strong E, Zhu O, Mackie J, Salema D, Volodarsky M, Roberts J, Steinraths M.
    Mosaic embryo transfer-first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15.
    F S Rep. 2022 May 10;3(3):192-197.
  418. He L, He C, Tang W.
    Prenatal diagnosis and genetic counseling of a maternally inherited chromosome 15q11.2q13.1 duplication in a Chinese family.
    Altern Ther Health Med. 2023 Jul 14:AT8764. Epub ahead of print.
  419. Yang Y, Hao W.
    Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis.
    Mol Cytogenet. 2023 Sep 4;16(1):23.