ChromosOmics - Database

Icon by Leon Liehr                   

                                                     - REFERENCES for #1 -                                                              

      0. Liehr et al. unpublished data
  1. 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.
  2. 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.
  3. Liehr T, Nietzel A, Starke H, Heller A, Weise A, Kuechler A, Senger G, Ebner S, T Martin, Stumm M, Wegner R, Tönnies H, Hoppe C, Claussen U, von Eggeling F. 
    Characterization of small marker chromosomes (SMC) by recently developed molecular cytogenetic approaches.
    J Ass Genet Techn 2003, 29:5-10.
  4. James RS, Temple IK, Dennis NR, Crolla JA.
    A search for uniparental disomy in carriers of supernumerary marker chromosomes.
    Eur J Hum Genet. 1995;3(1):21-26.
  5. Anderlid BM, Sahlen S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman F, Blennow E.
    Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy.
    Am J Med Genet. 2001 Mar 15;99(3):223-233.
  6. Callen DF, Ringenbergs ML, Fowler JC, Freemantle CJ, Haan EA.
    Small marker chromosomes in man: origin from pericentric heterochromatin of chromosomes 1, 9, and 16.
    J Med Genet. 1990 Mar;27(3):155-159.
  7. Callen DF, Eyre HJ, Ringenbergs ML, Freemantle CJ, Woodroffe P, Haan EA.
    Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics.
    Am J Hum Genet. 1991 Apr;48(4):769-782. Erratum in: Am J Hum Genet 1991 Aug;49(2):503.
  8. Callen DF, Eyre H, Fang YY, Guan XY, Veleba A, Martin NJ, McGill J, Haan EA.
    Origins of accessory small ring marker chromosomes derived from chromosome 1.
    J Med Genet. 1999 Nov;36(11):847-853.
  9. 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.
  10. Chen H, Tuck-Muller CM, Batista DA, Wertelecki W.
    Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization.
    Am J Med Genet. 1995 Mar 27;56(2):219-233.
  11. Lanphear N, Lamb A, Oppenheimer S, Soukup S.
    Supernumerary chromosome marker (1) in a developmentally delayed child.
    Am J Med Genet. 1995 Jul 3;57(3):400-402.
  12. Michalski K, Rauer M, Williamson N, Perszyk A, Hoo JJ.
    Identification, counselling, and outcome of two cases of prenatally diagnosed supernumerary small ring chromosomes.
    Am J Med Genet. 1993 Apr 1;46(1):88-94.
  13. Xu J, Fong CT, Cedrone E, Sullivan J, Wang N.
    Prenatal identification of de novo marker chromosomes using micro-FISH approach.
    Clin Genet. 1998 Jun;53(6):490-496.
  14. Shanske AL, Dowling P, Schmidt R, White BJ, Russell B, Bogdanow A, Marion RW.
    Simultaneous occurrence of two supernumerary autosomal ring chromosomes r(1) and r(16) in twins.
    J Med Genet. 1999 Aug;36(8):625-628.
  15. 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.
  16. 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.
  17. Giardino D, Bettio D, Gottardi G, Rizzi N, Pierluigi M, Perfumo C, Cali A, Dagna Bricarelli F, Larizza L.
    FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes.
    Am J Med Genet. 1999 Jun 4;84(4):377-378.
  18. Tönnies H, Neumann LM, Grüneberg B, Neitzel H.
    Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature.
    Am J Med Genet. 2003 Aug 30;121A(2):163-167.
  19. Crolla JA, Long F, Rivera H, Dennis NR.
    FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases.
    Am J Med Genet. 1998 Feb 3;75(4):355-366.
  20. 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.
  21. Dawson AJ, Konkin D, Riordan D, Chudley AE.
    Mosaic trisomy of a small r(1) with an abnormal phenotype.
    Am J Med Genet. 2001 Sep 15;103(1):32-35.
  22. Röthlisberger B, Zerova T, Kotzot D, Buzhievskaya TI, Balmer D, Schinzel A.
    Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child.
    J Med Genet. 2001 Dec;38(12):885-888.
  23. Higgins RR, Wright E, Baldinger S, Tschider E, Ahmad J, Schwartz S, Curtis CA.
    Neocentromere in a ring-shaped chromosome 1
    Am J Hum Genet. 2000; 67(Suppl.2):149.
  24. Slater HR, Nouri S, Earle E, Lo AW, Hale LG, Choo KH.
    Neocentromere formation in a stable ring 1p32-p36.1 chromosome.
    J Med Genet. 1999 Dec;36(12):914-918.
  25. Saffery R, Irvine DV, Griffiths B, Kalitsis P, Wordeman L, Choo KH.
    Human centromeres and neocentromeres show identical distribution patterns of >20 functionally important kinetochore-associated proteins.
    Hum Mol Genet. 2000 Jan 22;9(2):175-185.
  26. Finelli P, Cavalli P, Giardino D, Gottardi G, Natacci F, Savasta S, Larizza L.
    FISH characterization of a supernumerary r(1)(::cen-->q22::q22-->sq21::) chromosome associated with multiple anomalies and bilateral cataracts.
    Am J Med Genet. 2001 Nov 22;104(2):157-164.
  27. 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):284-189.
  28. Kucerova M, Polivkova Z, Dluholucky S, Kvasnicova M.
    Terminal deletion with stable acentric fragment of 1q in a child with congenital malformations.
    Am J Hum Genet. 1983 Jan;35(1):91-95.
  29. Ramirez-Duenas ML, Gonzalez GJ.
    fra(1) (p11), fra(1) (q22) and r(1) (p11q22) in a retarded girl.
    Ann Genet. 1992;35(3):178-182.
  30. Tönnies H, Hennies HC, Spohr HL, Neitzel H.
    Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques.
    Cytogenet Genome Res 2003; 103: 28-33.
  31. Amor DJ, Choo KH.
    Neocentromeres: role in human disease, evolution, and centromere study.
    Am J Hum Genet. 2002 Oct;71(4):695-714
  32. Leask K, Clayton-Smith J
    Mosaicism for a small ring chromosome 1 with an abnormal phenotype.
    J Med Gen 2004; 41(Sup 1):S41 (Abstractnr. 1.38)
  33. Lefort G, Blancher P, Chaze AM, Vago P, Pinton A, Pellestor F, Puechberty J, Sarda P
    Cytogenetic characterisation and phenotype of an unusual supernumerary chromosome(1) marker.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 179 (Abstractnr 905).
  34. Barbi G, Spaich C, Adolph S, Rossier E, Kehrer-Sawatzki H.
    Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 --> q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotoric developmental delay.
    Am J Med Genet 132A(4):419-424.
  35. Cotter PD, Drexler K, Corley AL, Covert SM, Moland JS, Govberg IJ, Norton ME.
    Prenatal Diagnosis of Minute Supernumerary Marker Chromosomes.
    Gynecol Obstet Invest. 2005; 60(1):27-38.
  36. Warburton PE.
    Chromosomal dynamics of human neocentromere formation.
    Chromosome Res. 2004;12(6):617-626.
  37. 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)
  38. Sanz R, Sousa A, Gonzáles.
    Identification of the chromosomal origin of small supernumerary marker chromosomes and its phenotypic effect.
    Chromosome Res 2005; 13 suppl. 1, 69 (Abstractnr. 1.126-P)
  39. Rodriguez L, Starke H, Guardia NM, Tönnies H, Neitzel H, Kozlowski P, Mazauric ML, Heller A, Grondona FL, Mansilla E, Santos Munoz MJ, Liehr T, Martinez-Frias ML.
    Three new cases with a supernumerary ring chromosome 1.
    Clin Dysmorphol. 2005 Oct;14(4):169-175.
  40. 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.
  41. 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.
  42. Bernardini L, Capalbo A, D'Avanzo MG, Torrente I, Grammatico P, Dell'Edera D, Cavalcanti DP, Novelli A, Dallapiccola B.
    Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlation.
    Eur J Med Genet. 2007 Mar-Apr;50(2):94-102.
  43. 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.
  44. Schneider A, Abadie C, Chaze A, Lefort G, Blanchet P, Sarda P, Vago P, Puechberty J.
    An unusual supernumerary marker chromosome diagnosed following amniocentesis for advanced maternal age: cytoegnetic characterization and phenotype.
    Europ J Hum Gen 2007, Vol 15 Suppl. 1, p120 (Abstractnr. P0386)
  45. 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)
  46. 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)
  47. Fickelscher I, Starke H, Schulze E, Ernst G, Kosyakova N, Mkrtchyan H, Macdermont K, Sebire N, Liehr T.
    A further case with a small supernumerary marker chromosome (sSMC) derived from chromosome 1-evidence for high variability in mosaicism in different tissues of sSMC carriers.
    Prenat Diagn. 2007, 27:783-785.
  48. Wray AM, Dennis TR, Ghidini A, Gorman B, Haddad BR, Meck JM.
    Prenatal diagnosis of supernumerary ring chromosome 1: case report and review of the literature.
    Genet Couns. 2007;18(2):233-241.
  49. Astbury C, Christ L, Curtis CA, Hassa RL, Jamehdor M, Tiller GE.
    Two, non-identical ´, de novo markers derived from chromosome 1 associated with cardiac abnormalities and cleft lip palate.
    Abstracts 57th annual meeting of the American Society of Human Genetics, 23.-27.10.2007, p332 (Abstractno. 1686 - information directly from poster).
  50. Une T, Yokoyama Y, Ninomiya S, Shinozuka M, Maruyama H, Morishima T.
    Assessment of molecular cytogenetic methods for the detection of chromosomal abnormalities.
    Acta Med Okayama. 2006 Oct;60(5):279-287.
  51. 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.
  52. 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.
  53. Chan NP, Ng MH, Cheng SH, Lee V, Tsang KS, Lau TT, Li CK.
    Hereditary duplication of proximal chromosome 1q (q11q22) in a patient with T lymphoblastic lymphoma/leukaemia: a family study using G banding and comparative genomic hybridisation.
    J Med Genet. 2002 Dec;39(12):e79.
  54. Say B, Carpenter NJ.
    Report of a case resembling the Proteus syndrome with a chromosome abnormality.
    Am J Med Genet. 1988 Dec;31(4):987-989.
  55. Germain-Lee EL, Schiffman G, Mules EH, Lederman HM.
    Selective deficiency of antibody responses to polysaccharide antigens in a child mosaic for partial trisomy 1 (46,XX,dir dup (1) (q12----q23)/46,XX).
    J Pediatr. 1990 Jul;117(1 Pt 1):96-99.
  56. de Silva D, Massie D, Drummond J, Couzin D, Dean JC.
    Mosaicism for a tandem duplication dup(1)(q12q22) in an 18 year old female.
    J Med Genet. 1998 Jul;35(7):600-603.
  57. Mertens F, Johansson B, Forslund M, Olsson M, Kristoffersson U.
    Tandem duplication (1) (q11----q22) in a male infant with multiple congenital malformations.
    Clin Genet. 1987 Jul;32(1):46-48.
  58. Chen H, Kusyk CJ, Tuck-Muller CM, Martinez JE, Dorand RD, Wertelecki W.
    Confirmation of proximal 1q duplication using fluorescence in situ hybridization.
    Am J Med Genet. 1994 Mar 1;50(1):28-31.
  59. Furforo L, Rittler M, Slavutsky IR.
    Proximal trisomy 1q in a girl with developmental delay and minor anomalies.
    Am J Med Genet. 1996 Sep 6;64(4):551-555.
  60. Nowaczyk MJ, Bayani J, Freeman V, Watts J, Squire J, Xu J.
    De novo 1q32q44 duplication and distal 1q trisomy syndrome.
    Am J Med Genet A. 2003 Jul 15;120(2):229-233.
  61. Utine GE, Aktas D, Alanay Y, Gücer S, Tuncbilek E, Mrasek K, Liehr T.
    Distal partial trisomy 1q: report of two cases and a review of the literature.
    Prenat Diagn. 2007 Sep;27(9):865-871.
  62. 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.
  63. Sawyer JR, Binz RL, Swanson CM, Lim C.
    De novo proximal duplication of 1(q12q22) in a female infant with multiple congenital anomalies.
    Am J Med Genet A. 2007 Feb 15;143(4):338-342.
  64. Doria S, Pinho MJ, Alves C, Almeida C, Castedo S, Barros A.
    Molecular cytogenetic characterization of two mosaic supernumerary marker chromosomes 1 with distinct phenotypes.
    Annales de Genetique 2003, 46(2-3): 336-337 (abstract no 14.9).
  65. Vust A, Riordan D, Wickstrom D, Chudley AE, Dawson AJ.
    Functional mosaic trisomy of 1q12-->1q21 resulting from X-autosome insertion translocation with random inactivation.
    Clin Genet. 1998 Jul;54(1):70-73.
  66. 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.
  67. Lee B, Park S, Lee M, Kim J, Park J, Han J, Kang I, Yang K, Ryu H.
    Characterization of mosaic supernumerary marker chromosomes using MFISH: origin from chromosome 1, 16 and 17.
    Chr Res 2009, 17(Supl. 1):S180 (Abstractno: 11.7-P).
  68. Roos A, Tönnies H, Goecke T, Haaf T, Baudis M, Spengler S, Eggermann T, Schüler H.
    First case of a constitutional intrachromosomal triplication 1q43->q44: molecular- and cytogenetic investigations and characterization of the phenotype.
    Chr Res 2009, 17(Supl. 1):S48-49 (Abstractno: 1.39-P).
  69. 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.
  70. Liehr T, Wegner R-D, Stumm M, Martin T, Gillessen-Kaesbach G, Kosyakova N, Ewers E, Hamid AB, von Eggeling F, Hentschel J, Ziegler M, Weise A.
    Three new cases with small supernumerary marker chromosomes 1 and normal phenotype.
    J Chin Med Assoc 2010, 73: 205-207.
  71. de Figueiredo AF, Mkrtchyan H, Liehr T, Soares Ventura EM, de Jesus Marques-Salles T, Santos N, Ribeiro RC, Abdelhay E, Macedo Silva ML.
    A case of childhood acute myeloid leukemia AML (M5) with a neocentric chromosome neo(1)(qter-->q23 approximately 24::q23 approximately 24-->q43-->neo-->q43-->qter) and tetrasomy of chromosomes 8 and 21.
    Cancer Genet Cytogenet. 2009 Sep;193(2):123-126.
  72. Blom E, Heyning FH, Kroes WG.
    A case of angioimmunoblastic T-cell non-Hodgkin lymphoma with a neocentric inv dup(1).
    Cancer Genet Cytogenet. 2010 Oct 1;202(1):38-42.
  73. Kosztolányi G, Brecevic L, Bajnòczky K, Schinzel A, Riegel M.
    Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report.
    Eur J Med Genet. 2011 Mar-Apr;54(2):152-156.
  74. Schneider A, Pinson L, Blancher P, Puechberty J, Tournaire M, Girard M, Genevieve D, Sarda P, Lefort G.
    Difficulties of interpretation of chromosomal markers in prenatal diagnostics
    Chromosome Res 2011, Vol 19 (Suppl. 1), pp S213 (Abstractnr. 10.P23 - information from poster)
  75. 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.
  76. Chen CP, Lin SP, Chen M, Su YN, Chern SR, Wang TY, Liu YP, Tsai FJ, Lee CC, Chen YJ, Wang W.
    Mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy facial asymmetry psychomotor retardation kyphoscoliosis dermatofibrosarcoma and multiple exostoses.
    Genet Couns. 2011;22(3):273-280.
  77. Rasmussen M, Graakjaer J, Skytte A, Dunkhase-Heinl U, Bojesen A.
    SNP array evaluation of a mosaic supernummery marker chromosome in a girl with developmental delay
    Europ J Hum Genet 20 (Suppl. 1), p 120, Abstractnr. P03.080).
  78. 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.
  79. 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.
  80. 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.
  81. Chen CP, Chen M, Su YN, Huang JP, Chern SR, Wu PS, Su JW, Chang SP, Chen YT, Lee CC, Chen LF, Pan CW, Wang W.
    Mosaic small supernumerary marker chromosome 1 at amniocentesis: Prenatal diagnosis, molecular genetic analysis and literature review.
    Gene. 2013 Oct 15;529(1):169-175.
  82. 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.
  83. 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.
  84. 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. 
  85. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.
  86. Brečević L, Rinčić M, Krsnik Ž, Sedmak G, Hamid AB, Kosyakova N, Galić I, Liehr T, Borovečki F.
    Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving the DPYD enigma.
    Translat Neuroscience 2015, 6:59-86.
  87. Male infertility associated with a supernumerary marker chromosome.
    Song SH, Park SH, Shin E, Jung JH, Shim SH, Kim DS.
    World J Mens Health. 2017 Dec;35(3):205-208.
  88. Al-Rikabi ABH, Pekova S, Fan X, Jančušková T, Liehr T.
    Small supernumerary marker chromosome may provide information on dosage-insensitive pericentric regions in human.
    Curr Genomics 2018; 19:192-199.
  89. Kurtas NE, Xumerle L, Leonardelli L, Delledonne M, Brusco A, Chrzanowska K, Schinzel A, Larizza D, Guerneri S, Natacci F, Bonaglia MC, Reho P, Manolakos E, Mattina T, Soli F, Provenzano A, Al-Rikabi AH, Errichiello E, Nazaryan-Petersen L, Giglio S, Tommerup N, Liehr T, Zuffardi O.
    Small supernumerary marker chromosomes: A legacy of trisomy rescue?
    Hum Mutat    . 2019 Feb;40(2):193-200.
  90. 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.
  91. 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.
  92. Zhou L, Zheng Z, Xu Y, Lv X, Xu C, Xu X.
    Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array.
    Mol Cytogenet. 2021 Mar 19;14(1):19.