ChromosOmics - Database

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                                                     - REFERENCES Polysomy AUTOSOMAL -                               

      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 unpublished data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. Starke H, Mitulla B, Nietzel A, Heller A, Beensen V, Grosswendt G, Claussen U, von Eggeling F, Liehr T.
    First patient with trisomy 21 accompanied by an additional der(4)(:p11 → q11:) plus partial uniparental disomy 4p15-16.
    Am J Med Genet. 2003 Jan 1;116A(1):26-30.
  3. 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.
  4. Waters JJ, Howard PJ.
    Robertsonian translocation and extra microchromosome.
    Clin Genet. 1988 Aug;34(2):140-141.
  5. Howard PJ, Fielding DW.
    Robertsonian translocation and an extra microchromosome: aetiology and effect on meiotic segregation.
    Clin Genet. 1987 Jul;32(1):57-60.
  6. Steinbach P, Djalali M.
    Ineffectivity of accessory bisatellited marker chromosomes in inducing meiotic nondisjunction.
    Hum Genet. 1983;64(4):402-403.
  7. Steinbach P, Djalali M, Hansmann I, Kattner E, Meisel-Stosiek M, Probeck HD, Schmidt A, Wolf M.
    The genetic significance of accessory bisatellited marker chromosomes.
    Hum Genet. 1983;65(2):155-164.
  8. Boragaonkar DS, Shaffer R, Reed WC, Jackson LG, Bresnahan K, Boragaonkar M, Eleuterio M, Huntington C, Levitsky K, Sokoloff B.
    Repository of chromosomal variants and anomalies in man. An international registry of abnormal karyotypes.
    Wilmington Medical Center, Wilmington DW, Alfred I. du Pont Institute, Wilmington DW, University of Deleware, Newark DE, Thomas Jefferson University, Philadelphia 1982.
  9. Ricci N, Ventimiglia B, Preto G.
    [Transmission of a small supernumerary chromosome in a family with two cases of 21 trisomy]
    Ann Genet. 1968 Jun;11(2):114-116. French.
  10. Armendares S, Buentello L, Cuevas-Sosa A, Cantu-Garza JM.
    Familial extra centric bisatellited chromosome.
    Cytogenetics. 1969;8(3):177-186.
  11. Ramos C, Rivera L, Benitez J, Tejedor E, Sanchez-Cascos A.
    Recurrence of Down's syndrome associated with microchromosome.
    Hum Genet. 1979 May 23;49(1):7-10.
  12. Calabro A, Lungarotii MS, Dallapiccolla B.
    A comment on the paper: Recurrence of Down Syndrome Associated with Microchromosome by C. Ramos, L. Rivera, J. Benitez, E. Tejedor, and A. Sanchez-Cascos.
    Hum Genet. 1980 Feb;53(2):287-288.
  13. Osztovics M, Kiss P.
    Down syndrome: correspondence of clinical diagnosis and karyotype.
    Acta Paediatr Acad Sci Hung. 1982;23(3):261-282.
  14. Sachs ES, Van Hemel JO, Den Hollander JC, Jahoda MG.
    Marker chromosomes in a series of 10,000 prenatal diagnoses. Cytogenetic and follow-up studies.
    Prenat Diagn. 1987 Feb;7(2):81-89.
  15. Tsuji K, Nomoto N, Sasaki M
    The fluorescence pattern of an extra bisatellited small metacentric chromosome in a family with Down's syndrome
    Chromosome Inf Serv 1973 15: 16-18.
  16. Pajares I, Delicado A, Barreiro E
    Extraminichromosomes
    Bol Fund Jimenez Diaz 1976 8:35-38.
  17. Bargman GJ, Neu RL, Powers HO, Gardner LI.
    48,XY,21+, mar+mat: a case of trisomy 21 associated with an inherited small marker chromosome.
    J Med Genet. 1970 Mar;7(1):99-100.
  18. Giorgi PL, Ceccarelli M, Casarosa L, Cortelli G.
    [Clinical and cytogenetic aspects of mongolism. IV. Small extra chromosomal fragment with familial recurrence]
    Minerva Pediatr. 1972 May 5;24(16):665-669. Italian.
  19. Mulcahy MT, Jenkyn J.
    Results of 538 chromosome studies on patients referred for cytogenetic analysis.
    Med J Aust. 1972 Dec 9;2(24):1333-1338.
  20. Cox DM, Bradley CM, Robinson A
    A non-Robertsonian translocation t(21;21) in a patient with Down's syndrome associated with familial supernumerary marker chromosome.
    Am J Genet 1981, 33:102A.
  21. Anneren G, Wahlstrom J, Tommerup N.
    Marker chromosomes in parents to children with Down's syndrome.
    Clin Genet. 1984 Feb;25(2):140-147.
  22. Prieto F, Badia L
    Trisomy 21 with translocation 21/21 in two children of a mother with an extra microchromosome.
    Trisomy 21. Burgio GR, Fraccaro M, Tiepolo L, Wolf U (eds) Berlin, Heidelberg, New York, Springer Verlag p251.
  23. 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.
  24. 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.
  25. 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.
  26. Abeliovich D, Katz M, Karplus M, Carmi R.
    A de novo translocation, 14q21q, with a microchromosome-14p21p.
    Am J Med Genet. 1985 Sep;22(1):29-33.
  27. Bajnoczky K, Gardo S.
    Familial extra bisatellited microchromosome and Down syndrome.
    Acta Paediatr Hung. 1991;31(4):403-406.
  28. Wuu KD, Wuu SW, Liu IW.
    A cytogenetic survey of mentally retarded children in Taiwan: final report on the incidence of chromosome abnormalities.
    Proc Natl Sci Counc Repub China B. 1984 Jan;8):83-88.
  29. Midyan S, Nazaryan L, Sarkisyan T
    Chromosomal rearrangements in Armenia registery of chromosomal abnormalities
    Europ J Hum Genet 2005; 13 Suppl. 1:141-142 (Abstractno. P0289)
  30. Lungeanu A, Arghir A, Budisteanu M, Chirieac S, Cardos G
    Identification of a small supernumerary marker chromosome in a case of  Down syndrome.
    Chr Res 2009, 17(Supl. 1):S71 (Abstractno: 1.88-P).
  31. Vundinti BR, Korgaonkar S, Ghosh K.
    Familial small supernumerary marker chromosome (sSMC) (14)(:P11-q11:)In a child with translocation down syndrome.
    Indian J Pediatr. 2009 Dec;76(12):1265-1267.
  32. Niksic SB, Deretic VI, Pilic GR, Ewers E, Merkas M, Ziegler M, Liehr T.
    Trisomy 21 with a small supernumerary marker chromosome derived from chromosomes 13/21 and 18.
    Balk J Med Genet 2010, 13:55-58.
  33. Sheth FJ, Andrieux J, Ewers E, Kosyakova N, Weise A, Sheth H, Romana SP, Lelorc'h M, Delobel B, Theisen O, Liehr T, Nampoothiri S, Sheth J.
    Characterization of sSMC by FISH and molecular techniques.
    Eur J Med Genet. 2011;54(3):247-255.
  34. Vundinti BR, Korgaonkar S, Ghosh K.
    Familial small supernumerary marker chromosome (sSMC) (14)(:p11-q11:) [corrected] in a child with translocation Down syndrome.
    Indian J Pediatr. 2009 Dec;76(12):1265-1267.
  35. 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.
  36. 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.
  37. 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.
  38. 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.
  39. 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.
  40. Yakut S, Sanhal C, Manguoglu E, Cetin Z.
    Prenatal diagnosis of isochromosome 21p and isochromosome 21q in a fetus with Down syndrome.
    Genet Couns    . 2014;25(3):2572-64.
  41. Dutta UR, Pidugu VK, Goud V, Dalal AB.
    Mosaic Down syndrome with a marker: molecular cytogenetic characterization of the marker chromosome.
    Gene. 2012 Mar 10;495(2):199-204.
  42. 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.
  43. Waters JJ, Howard PJ.
    Robertsonian translocation and extra microchromosome.
    Clin Genet. 1988 Aug;34(2):140-141.
  44. Howard PJ, Fielding DW.
    Robertsonian translocation and an extra microchromosome: aetiology and effect on meiotic segregation.
    Clin Genet. 1987 Jul;32(1):57-60.
  45. 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.