ChromosOmics - Database

Icon by Leon Liehr                   

                                                     - REFERENCES for #20 -                                                              

      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 unpublished data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, 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.
  3. Chudoba I, Franke Y, Senger G, Sauerbrei G, Demuth S, Beensen V, Neumann A, Hansmann I, Claussen U.
    Maternal UPD 20 in a hyperactive child with severe growth retardation.
    Eur J Hum Genet. 1999 Jul;7(5):533-540.
  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 and DNA in the mother - present state and perpectives.
    The Karolinum Press, Prag, 2002, pp 293-300, ISBN: 80-246-0397-7.
  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. Blennow E, Anneren G, Bui TH, Berggren E, Asadi E, Nordenskjold M.
    Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH).
    Am J Hum Genet. 1993 Aug;53(2):433-442.
  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. Batista DA, Escallon C, Blakemore KJ, Stetten G.
    An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line.
    Prenat Diagn. 1995 Feb;15(2):123-127.
  9. Viersbach R, Engels H, Schwanitz G.
    Identification of supernumerary der(20) chromosomes by FISH in three patients.
    Am J Med Genet. 1997 Jun 13;70(3):278-283.
  10. van Langen IM, Otter MA, Aronson DC, Overweg-Plandsoen WC, Hennekam RC, Leschot NJ, Hoovers JM.
    Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization.
    Clin Genet. 1996 Jan;49(1):49-53.
  11. 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.
  12. Stankiewicz P, Bocian E, Jakubow-Durska K, Obersztyn E, Lato E, Starke H, Mroczek K, Mazurczak T.
    Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.
    J Med Genet. 2000 Feb;37(2):114-120.
  13. Austin-Ward ED, Castillo S, Dragnic Y, Sanz P, Salazar S, Knoll JH.
    Clinical findings in a patient mosaic for a supernumerary ring chromosome 20.
    Am J Med Genet. 2000 Mar 20;91(3):171-174.
  14. 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.
  15. Hsu LY, Yu MT, Richkind KE, Van Dyke DL, Crandall BF, Saxe DF, Khodr GS, Mennuti M, Stetten G, Miller WA, Priest JH.
    Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study.
    Prenat Diagn. 1996 Jan;16(1):1-28.
  16. Johnson DH, Kroisel PM, Klapper HJ, Rosenkranz W.
    Microdissection of a human marker chromosome reveals its origin and a new family of centromeric repetitive DNA.
    Hum Mol Genet. 1992 Dec;1(9):741-747.
  17. Voullaire L, Saffery R, Davies J, Earle E, Kalitsis P, Slater H, Irvine DV, Choo KH.
    Trisomy 20p resulting from inverted duplication and neocentromere formation.
    Am J Med Genet. 1999 Aug 6;85(4):403-408.
  18. 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.
  19. Choo KH.
    Centromere DNA dynamics: latent centromeres and neocentromere formation.
    Am J Hum Genet. 1997 Dec;61(6):1225-1233.
  20. 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.
  21. Voullaire L, Saffery R, Davies J, Earle E, Kalitsis P, Slater H, Irvine DV, Choo KH.
    Trisomy 20p resulting from inverted duplication and neocentromere formation.
    Am J Med Genet. 1999 Aug 6;85(4):403-408.
  22. Warburton PE.
    Chromosomal dynamics of human neocentromere formation.
    Chromosome Res. 2004;12(6):617-626.
  23. Wiland E, Jarmuz M, Kurpisz M.
    Segregation of the marker chromosome der(20) in the sperm of a male with karyotype 46,XY[96]/47,XY+mar[4].
    Med Sci Monit. 2005 Feb 25;11(3):CS9-15.
  24. McNerlan SE, Morrison PJ, McClure N, Nevin NC.
    A supernumerary chromosome 20, identified by FISH, in a male with azoospermia-cause or coincidence?
    Am J Med Genet A. 2003;117(2):188-190.
  25. Gray BA, Bent-Williams A, Wolff DJ, Zori RT.
    A non-sex chromosome marker in a patient with an atypical Ullrich-Turner phenotype and mosaicism of 46,X,mar/46,XX.
    Clin Genet. 2001;60(1):73-76.
  26. Pinto MR, Fonseca e Silva ML, Aguiar J, Quelhas I, Lima MR.
    Supernumerary ring chromosome 20 in a mother and her child.
    Am J Med Genet A. 2005 Mar 1;133(2):193-196.
  27. 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.
  28. Marle N, Faivrea L, Callier P, Thauvin C, Mosca A, Mugneret F.
    Report of a patient with duplication of proximal 20q: clinical and cytogenetic characterization.
    Europ J Hum Gen 2007, Vol 15 Suppl. 1, p121 (Abstractnr. P0390)
  29. 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.
  30. 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.
  31. Lo AW, Magliano DJ, Sibson MC, Kalitsis P, Craig JM, Choo KH.
    A novel chromatin immunoprecipitation and array (CIA) analysis identifies a 460-kb CENP-A-binding neocentromere DNA.
    Genome Res. 2001 Mar;11(3):448-457.
  32. Faivre L, Viot G, Prieur M, Turleau C, Gosset P, Romana S, Munnich A, Vekemans M, Cormier-Daire V.
    Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1
    Am J Med Genet. 2000 Apr 10;91(4):273-276.
  33. Moog U, Engelen J, Albrechts J, Hoorntje T, Hendrikse F, Schrander-Stumpel C.
    Alagille syndrome in a family with duplication 20p11.
    Clin Dysmorphol. 1996 Oct;5(4):279-288.
  34. Wanderley HY, Schrander-Stumpel CT, Visser MO, Van Maanen-Op Het Roodt EA, Loneus WH, Engelen JJ.
    Report of a patient with a trisomy of chromosome region 20q11.2-->20q12 and characterization with FISH.
    Genet Couns. 2005;16(3):277-282.
  35. 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.
  36. Ardalan A, Prieur M, Choiset A, Turleau C, Goutieres F, Girard-Orgeolet S.
    Intrachromosomal insertion mimicking a pericentric inversion: molecular cytogenetic characterization of a three break rearrangement of chromosome 20.
    Am J Med Genet A. 2005 Oct 15;138A(3):288-293.
  37. 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)
  38. Bown N, Cross I, Davison EV, Burn J.
    Partial trisomy 20p resulting from a recombination of a familial pericentric inversion.
    Hum Genet. 1986 Dec;74(4):417-419.
  39. Zumel RM, Darnaude MT, Delicado A, Diaz de Bustamante A, de Torres ML, López Pajares I.
    Trisomy 20p from maternal translocation and anencephaly. Case report and genetic review.
    Ann Genet. 1989;32(4):247-249.
  40. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 797-800.
  41. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 802-803.
  42. Kitsiou-Tzeli S, Manolakos E, Lagou M, Kontodiou M, Kosyakova N, Ewers E, Weise A, Garas A, Orru S, Liehr T, Metaxotou A.
    Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male.
    Mol Cytogenet. 2009; 2(1):1.
  43. Liehr T.
    Small supernumerary marker chromosomes (sSMCs): a spotlight on some nomenclature problems.
    J Histochem Cytochem. 2009 Nov;57(11):991-993.
  44. 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.
  45. Callier P, Faivre L, Pigeonnat S, Quilichini B, Marle N, Thauvin-Robinet C, Mosca AL, Masurel-Paulet A, Rousseau T, Sagot P, Laurent N, Mugneret F.
    Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20.
    Prenat Diagn. 2009 Oct;29(10):1002-1005.
  46. Guediche N, Brisset S, Benichou JJ, Guérin N, Mabboux P, Maurin ML, Bas C, Laroudie M, Picone O, Goldszmidt D, Prévot S, Labrune P, Tachdjian G.
    Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20.
    Am J Med Genet A. 2010 Jan 25;152A(2):464-471.
  47. 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.
  48. 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.
  49. Botelho P, Souto M, Sousa M, Sousa S, Martins M, Moutinho O, Pinto Leite R
    A de novo marker chromosome derived from chromosome 20 in a child with global developmental delay.
    Chromosome Res 2011, Vol 19 (Suppl. 1), p S101 (Abstractnr. 1.P115).
  50. Wu YC, Fang JS, Lee KF, Estipona J, Yang ML, Yuan CC.
    Prenatal diagnosis of occipital encephalocele, mega-cisterna magna, mesomelic shortening, and clubfeet associated with pure tetrasomy 20p.
    Prenat Diagn. 2003 Feb;23(2):124-127.
  51. Fryer AE, Ashworth M, Hawe J, Pilling D, Pauling M, Maye U.
    Isochromosome 20p associated with multiple congenital abnormalities.
    Clin Dysmorphol. 2005 Jan;14(1):49-50.
  52. 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.
  53. García M, Guzmán M, Sánchez M, Abarca E, Rodríguez L.
    Characterization of a postnatal “de novo” sSMC derived from chromosome 20.
    Europ J Hum Genet 20 (Suppl. 1), p 129, Abstractnr. P03.124).
  54. 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.
  55. Reddy KS, Aradhya S, Meck J, Tiller G, Abboy S, Bass H.
    A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity.
    Genet Med. 2013 Jan;15(1):3-13.
  56. 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.
  57. 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.
  58. 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.
  59. 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).
  60. 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).
  61. 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.
  62. 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).
  63. Fryer AE, Ashworth M, Hawe J, Pilling D, Pauling M, Maye U.
    Isochromosome 20p associated with multiple congenital abnormalities.
    Clin Dysmorphol
    . 2005 Jan;14(1):49-50.
  64. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.
  65. Abu Maziad AS, Seaver LH.
    Mosaic tetrasomy 20p associated with osteoporosis and recurrent fractures.
    Am J Med Genet A
    . 2015 Jul;167(7):1582-1586.
  66. Izumi K, Kubota N, Arakawa M, Takayama M, Harada Y, Nakamura T, Nishi E, Hidaka E.
    Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic pierre robin sequence: Combinatorial effect of gene dosage and uniparental disomy.
    Am J Med Genet A. 2015 Jun;167(6):1289-1293. 
  67. 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.
  68. Stembalska A, Gil J, Laczmanska I, Sasiadek M.
    Clinical observation of a child with prenatally diagnosed de novo partial trisomy of chromosome 20.
    Fetal Pediatr Pathol
    . 2019 Jun;38(3):245-256.
  69. 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.
  70. Kleinfinger P, Brechard M, Luscan A, Trost D, Boughalem A, Mylene Valduga, Serero Dr S, Costa JM, Lohmann L.
    Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome.
    Front Genet. 2022 Sep 26;13:926290.