ChromosOmics - Database

Icon by Leon Liehr                   

                                                     - REFERENCES for #21 -                                                              

      0. Liehr et al. unpublished data
  1. Wolff DJ, Schwartz S.
    Characterization of Robertsonian translocations by using fluorescence in situ hybridization.
    Am J Hum Genet. 1992 Jan;50(1):174-181.
  2. 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.
  3. Brisset S, Aboura A, Audibert F, Costa JM, L'Hermine AC, Gautier V, Frydman R, Tachdjian G.
    Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21.
    Prenat Diagn. 2003 Jun;23(6):461-469.
  4. Macintyre MN, Walden DB, Hempel JM.
    Tertiary trisomy in a human kindred containing an E/G translocation.
    Am J Hum Genet. 1971 Sep;23(5):431-441.
  5. 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.
  6. 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.
  7. Bartsch O, König U, Petersen MB, Poulsen H, Mikkelsen M, Palau F, Prieto F, Schwinger E.
    Cytogenetic, FISH and DNA studies in 11 individuals from a family with two siblings with dup(21q) Down syndrome.
    Hum Genet. 1993 Sep;92(2):127-132.
  8. Sun Y, Rubinstein J, Soukup S, Palmer CG.
    Marker chromosome 21 identified by microdissection and FISH.
    Am J Med Genet. 1995 Mar 27;56(2):151-154.
  9. Stefanou EG, Crocker M.
    A chromosome 21-derived minute marker in a mosaic trisomy 21 background: Implications for risk assessments in marker chromosome cases.
    Am J Med Genet. 2004 Jun 1;127A(2):191-193.
  10. 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).
  11. Marques B, Boieiro F, Silva M, Simao L, Almeida R, Santos S, Afonso S, Medeira A, Correia H, Boavida MG.
    Identification of supernumerary marker chromosome in a newborn.
    Chromosome Res 2005; 13 suppl. 1: 67 (Abstractnr. 1.122-P).
  12. 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.
  13. 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
  14. 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.
  15. Pietrzak J, Mrasek K, Obersztyn E, Stankiewicz P, Kosyakova N, Weise A, Cheung S Wai, Cai W Wen, Eggeling F von, Mazurczak T, Bocian E, Liehr T.
    Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.
    J Appl Genet. 2007;48(2):167-175.
  16. 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.
  17. Ahlbom BE, Wahlstrom J, Saalman R, Wadelius C, Anneren G.
    Severe psychomotor retardation in a boy with a supernumerary derivative chromosome resulting in partial trisomy 21 and partial trisomy 7p.
    Ann Genet. 2003 Jan-Mar;46(1):29-35.
  18. Simovich MJ, Kang SHL, Patel A, Pursley A, Chinault AC, Lupski JR, Beaudet AL, Van den Veyer IB, Cheung SW.
    Prenatal detection and characterization of supernumerary marker chromosomes by array-CGH.
    Abstracts 57th annual meeting of the American Society of Human Genetics, 23.-27.10.2007, p458 (Abstractno. 2423 - information directly from poster).
  19. 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.
  20. Nagarsheth NP, Mootabar H.
    Prenatal diagnosis of mosaic tetrasomy 21q confirmed by fluorescence in situ hybridization.
    Clin Genet. 1997 Apr;51(4):260-263.
  21. 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.
  22. Bakshi SR, Dave BJ, Sanger W, Brahmbhatt MM, Trivedi PJ, Kakadia PM, Patel SJ.
    Characterization of a familial small supernumerary marker chromosome in a patient with adult-onset tongue cancer.
    Cytogenet Genome Res. 2008;121(1):14-17.
  23. Ballif BC, Rorem EA, Sundin K, Lincicum M, Gaskin S, Coppinger J, Kashork CD, Shaffer LG, Bejjani BA.
    Detection of low-level mosaicism by array CGH in routine diagnostic specimens.
    Am J Med Genet A. 2006 Dec 15;140(24):2757-2767.
  24. 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)
  25. Cerretini R, Luccerini V, Stivel M, Bañares V, Aranda I, Alba L, Pivetta O, Slavutsky I.
    Tetrasomy 21pter-q22.11: molecular, cytogenetic, and clinical findings.
    Clin Genet. 1999 Apr;55(4):283-286.
  26. Daumer-Haas C, Schuffenhauer S, Walther JU, Schipper RD, Porstmann T, Korenberg JR.
    Tetrasomy 21 pter-->q22.1 and Down syndrome: molecular definition of the region.
    Am J Med Genet. 1994 Dec 1;53(4):359-365.
  27. Gütiérrez-Angulo M, Ramos AL, Dávalos N, Sánchez-Corona J, Rivera H.
    An extra idic(21)(q22.1) in a child with some features of Down's syndrome.
    Clin Genet. 1999 Mar;55(3):203-206.
  28. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 820-822.
  29. Van den Veyver IB, Patel A, Shaw CA, Pursley AN, Kang SH, Simovich MJ, Ward PA, Darilek S, Johnson A, Neill SE, Bi W, White LD, Eng CM, Lupski JR, Cheung SW, Beaudet AL.
    Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.
    Prenat Diagn 2009, 29:29-39.
  30. 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.
  31. Eckmann-Scholz C, Gesk S, Nagel I, Haake A, Bens S, Heidemann S, Kautza M, Timke C, Siebert R, Caliebe A.
    Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report.
    Mol Cytogenet. 2010 Sep 5;3:16.
  32. Chen CP, Lin CC, Ko TM, Tsai FJ, Chern SR, Lee CC, Chen YT, Wu PC, Wang W.
    Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 21.
    Taiwan J Obstet Gynecol. 2010 Sep;49(3):377-380.
  33. Villa N, Bentivegna A, Ertel A, Redaelli S, Colombo C, Nacinovich R, Broggi F, Lissoni S, Bungaro S, Addya S, Fortina P, Dalprà L.
    A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability.
    Am J Med Genet A. 2011 Jun;155A(6):1425-1431.
  34. L, Nalesso E, Gomirato S, Michelotto L, Marchioro K, Cellamare A, Duca M, Zavan B, Abatangelo G.
    Clinical application of whole genomic array-CGH during prenatal diagnostics: study of 25 selected pregnancies.
    Chromosome Res 2011, Vol 19 (Suppl. 1), pp S220 (Abstractnr. 10.P37)
  35. 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.
  36. 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.
  37. 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.
  38. 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.
  39. 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.
  40. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.
  41. Tachon G, Gatinois V, Puechberty J, Schneider A, Lefort G, Pellestor F.
    Illustration of the complementarity between CMA techniques and conventional cytogenetic techniques: a clinical case.
    Chromosome Res 2015, 23,Suppl 1: S59-60 (Abstractno: 1.P51).
  42. Zhang W, Pan Y, Zhang Y, Dai M, Chen X, Shi W.
    [Cytogenetic and molecular genetic analysis of small supernumerary marker chromosomes in fetal amniotic fluid].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):187-191. doi: 10.3760/cma.j.issn.1003-9406.2017.02.007. Chinese.
  43. Chen CP, Chen M, Wu CH, Lin CJ, Chern SR, Wu PS, Chen YN, Chen SW, Chang SP, Chen LF, Wang W.
    Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 21q11.2-q21.1 and a literature review.
    Taiwan J Obstet Gynecol. 2017 Aug;56(4):554-557.
  44. Chen CP, Chen M, Chern SR, Chang SP, Chen SW, Lai ST, Chen WL, Lee MS, Wang W.
    Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 21.
    Taiwan J Obstet Gynecol. 2017 Aug;56(4):566-568.
  45. 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.
  46. 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.
  47. Bellucco FT, Fock RA, de Oliveira-Júnior HR, Perez AB, Melaragno MI.
    Complex small supernumerary marker chromosome leading to partial 4q/21q duplications: Clinical implication and review of the literature.
    Cytogenet Genome Res    . 2018;156(4):173-178.
  48. El-Ruby M, Hemly NA, Zaki MS.
    Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome.
    Genet Couns    . 2007;18(2):217-26.
  49. Kitsiou-Tzeli S, Hallett JJ, Atkins L, Latt SA, Holmes LB.
    Familial t (4;21)(q2.4;q2.2) leading to unbalanced offspring with partial duplication of 4q and of 21q without manifestations of the Down syndrome.
    Am J Med Genet    . 1984 Aug;18(4):725-9.
  50. Aurias A, Prieur M, Dutrillaux B, Lejeune J.
    Systematic analysis of 95 reciprocal translocations of autosomes.
    Hum Genet    . 1978 Dec 29;45(3):259-82.
  51. Pfeiffer RA, Kessel EK, Soer KH.
    Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21.
    Clin Genet    . 1977 Mar;11(3):207-13.
  52. De la Chapelle A, Koivisto M, Schröder J.
    Segregating reciprocal (4;21) (q21;q21) translocation with proposita trisomic for parts of 4q and 21.
    J Med Genet    . 1973 Dec;10(4):384-9.
  53. Leschot NJ, Slater RM, Joenje H, Becker-Bloemkolk MJ, de Nef JJ.
    SOD-A and chromosome 21. Conflicting findings in a familial translocation (9p24;21q214).
    Hum Genet. 1981;57(2):220-3.
  54. Williams JD, Summitt RL, Martens PR, Kimbrell RA.
    Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21.
    Am J Hum Genet. 1975 Jul;27(4):478-85.
  55. 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.
  56. 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.
  57. Marques B, Serafim S, Pedro S, Ferreira C, Silva N, Tarelho AR, Simão L, Furtado J, Rangel S, Silva M, Peliano R, Salgado A, Alves C, Brito F, Silva NR, Correia H.
    A rearrangement involving an inversion and a translocation leading to a complex sSMC: from array to karyotype.
    ECA-Newsletter 2021, 48, p56. Poster     4.P4.
  58. 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.
  59. Moreira LM, Riegel M.
    Two sibs with duplication of 4q31-->qter due to 3:1 meiotic disjunction and mild phenotype.
    Genet Couns. 2000;11(3):249-59.
  60. Léonard C, Huret JL, Imbert MC, Lebouc Y, Selva J, Boulley AM.
    Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature.
    Am J Med Genet. 1992 Jun 1;43(3):621-5.