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 unpublished data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.
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