ChromosOmics - Database

Icon by Leon Liehr                   

                                                     - REFERENCES MULTIPLE -                                                              

      0. Liehr et al. unpublished data
  1. Mackie-Ogilvie C, Waddle K, Mandeville J, Seller MJ, Docherty Z.
    Rapid identification of multiple supernumerary ring chromosomes with a new FISH technique.
    J Med Genet. 1997 Nov;34(11):912-916.
  2. 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.
  3. Levy B, Jalal SM, Dunn TM, Warburton PE, Tonk VS, Hirschhorn K, Lockhart LH, Hughes T, Velagaleti GV.
    Unique case of mosaicism involving two morphologically similar marker chromosomes of different centric origin in a patient with developmental delay.
    Am J Med Genet. 2002 Mar 15;108(3):198-204.
  4. Aalfs CM, Jacobs ME, Nieste-Otter MA, Hennekam RC, Hoovers JM.
    Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay.
    Clin Genet. 1996 Jan;49(1):42-45.
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  6. 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.
  7. 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.
  8. Wiktor A, Van Dyke DL, Weiss L.
    Characterization of a de novo 48,XX,+r(X),+r(17) by in situ hybridization in a patient with neurofibromatosis (NF1).
    Am J Med Genet. 1993 Jan 1;45(1):22-24.
  9. Reddy KS, Wang S, Groh S, Gonatos J.
    SKY assessment of two karyotypes with 0-6 supernumerary marker/ring chromosomes and review of previously reported cases with two or more markers.
    Am J Med Genet. 2003 Apr 15;118A(2):156-171.
  10. Nandi KN, McDonald MT, Rogers KK, Rao KW.
    Mosaicism for two de novo supernumerary marker chromosomes derived from chromosomes 18 and 13.
    Am J Hum Genet., 2001;68(Suppl 4):793.
  11. Maurer B, Haaf T, Stout K, Reissmann N, Steinlein C, Schmid M.
    Two supernumerary marker chromosomes, originating from chromosomes 6 and 11, in a child with developmental delay and craniofacial dysmorphism.
    Cytogenet Cell Genet. 2001;93(3-4):182-187.
  12. 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.
  13. Vermeesch JR, Duhamel H, Petit P, Falzetti D, Fryns JP, Marynen P.
    Multiple small accessory marker chromosomes from different centromeric origin in a moderately mentally retarded male.
    Hum Genet. 1999 Dec;105(6):611-618.
  14. 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.
  15. 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.
  16. 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.
  17. Ulmer R, Pfeiffer RA, Wiest E, Goelz R, Trautmann U.
    Multiple (up to seven) different accessory small marker chromosomes: prenatal diagnosis and follow-up.
    Ann Genet. 1997;40(2):109-114.
  18. Beverstock GC, Bezrookove V, Mollevanger P, van de Kamp JJ, Pearson P, Kouwenberg JM, Rosenberg C.
    Multiple supernumerary ring chromosomes of different origin in a patient: a clinical report and review of the literature.
    Am J Med Genet A. 2003;122(2):168-173.
  19. Liehr T.
    FISH - Centromere specific multicolor FISH (CenM-FISH) - a versatile tool for characterization of small supernumerary marker chromosomes.
    In: Encyclopedia of Diagnostic Genomics and Proteomics. Eds: J Fuchs; M Podda. ISBN: 0824747941 und 0824755642; pp 468-470.
  20. Hall S, Boda Y, Cohen M, Junio J, Polihronis A, Tyrrell V, Wright D.
    FISH-mapping of r(9) and r(18) chromosomes ina mosaic newborn female.
    Chromosome Res 2005; 13 suppl. 1: 61 (Abstractnr. 1.108-P)
  21. 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 (abstract 1.126-P)
  22. Weimer J, Metzke-Heidemann S, Plendl H, Caliebe A, Grunewald R, Ounap K, Tammur P, Jonat W, Bartsch O, Siebert R, Arnold N.
    Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay.
    Am J Med Genet A. 2006 Mar 1;140(5):488-495.
  23. Chen M, Chang SP, Yin PL, Sapeta M, Barringer S, Kuo SJ, Yu HT, Wang BB.
    Prenatal identification of small supernumerary marker chromosomes by FISH in an infant born with mild congenital anomalies.
    Prenat Diagn. 2006 Apr;26(4):383-387
  24. Liehr T, Starke H, Senger G, Melotte C, Weise A, Vermeesch JR.
    Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC.
    Am J Med Genet A. 2006 Jan 1;140(1):46-51.
  25. 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.
  26. Ballif BC, Hornor SA, Sulpizio SG, Lloyd RM, Minier SL, Rorem EA, Theisen A, Bejjani BA, Shaffer LG.
    Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH.
    Genet Med. 2007 Mar;9(3):150-162.
  27. 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.
  28. 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.
  29. Toksoy G, Türköver B, Sayar C, Söylemez MA, Yardimci T, Tarhan N, Cesur S, Uludogan M.
    Unusual prenatal case with multiple marker chromosomes.
    Chr Res 2007, Vol 15 Suppl. 1, p 127 (Abstractnr. 1.241-P)
  30. Tsuchiya KD, Opheim KE, Hannibal MC, Hing AV, Glass JA, Raff ML, Norwood T, Torchia BA.
    Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization
    Molecular Cytogenetics 2008, 1:7.
  31. 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.
  32. Le Du N, Chambon P, Drouin-Garraud V, Joly-Hela G, Mabboux P, Gilles I, Serero S, Tabel A-C, Aboura A.
    Up to 6 supernumerary marker chromosomes in a child with mild developmental delay - complexity of genetic counselling.
    Chr Res 2009, 17(Supl. 1):S181 (Abstractno: 11.10-P).
  33. Kogan JM, Miller E, Ware SM.
    High resolution SNP based microarray mapping of mosaic supernumerary marker chromosomes 13 and 17: delineating novel loci for apraxia.
    Am J Med Genet A. 2009 May;149A(5):887-893.
  34. Neill NJ, Torchia BS, Bejjani BA, Shaffer LG, Ballif BC.
    Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH.
    Mol Cytogenet. 2010 Jun 29;3:11.
  35. Fernández-Toral J, Rodríguez L, Plasencia A, Martínez-Frías ML, Ewers E, Hamid AB, Ziegler M, Liehr T.
    Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities - a case report.
    J Med Case Reports 2010, 4:239.
  36. Bocian E, Nowakowska B, Obersztyn E, Borg K, Chudoba I, Kostyk E, Kruczek A, Pietrzyk J, Mazurczak T.
    [Characterization of marker chromosomes using molecular cytogenetic methods in patients with mental retardation and congenital malformations].
    Med Wieku Rozwoj. 2006 Jan-Mar;10(1 Pt 2):211-225. Polish.
  37. 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 May-Jun;54(3):247-255.
  38. Fei X, Qi M, Zhao Y, Li-Ling J.
    Identification and characterization of a complex pure mosaic of small supernumerary marker chromosomes involving 11p11.12 → q12.1 and 19p12 → q12 regions in a child featuring multiple congenital anomalies.
    Am J Med Genet A. 2011 Dec;155(12):3116-3121.
  39. Vundinti BR, Korgaonkar S, Ghosh K.
    De novo origin of multiple small supernumerary marker chromosomes (sSMCs) in a child with intellectual disability and dysmorphic features.
    Gene. 2012 Apr 25;498(1):128-130.
  40. Hu J, Madan-Khetarpal S, Serrano Russi AH, Kochmar S, Deward SJ, Sathanoori M, Surti U.
    Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.
    Genet Res Int. 2011;2011:185271.
  41. Gogiel M, Hagh J, Schüler H, Rad I, Omrani M, Eggermann K, Spengler S, Gamerdinger U, Schwanitz G.
    Rare case of three small supernumerary marker chromosomes originated from chromosomes 1, 12 and 18 in a girl with congenital abnormalities.
    Europ J Hum Genet 20 (Suppl. 1), p 120, Abstractnr. P03.081).
  42. Volleth M, Liehr T, Schanze D, Zenker M, Muschke P, Schanze I.
    Prenatal diagnosis of multiple small supernumerary marker chromosomes (sSMCs) of different centromeric origin.
    Europ J Hum Genet 20 (Suppl. 1), p 149, Abstractnr. P05.32).
  43. Joziasse IC, van der Smagt JJ, Poot M, Hochstenbach R, Nelen MR, van Gijn M, Dooijes D, Mulder BJ, Doevendans PA.
    A duplication including GATA4 does not co-segregate with congenital heart defects.
    Am J Med Genet A. 2009 May;149A(5):1062-1066.
  44. Guediche N, Tosca L, Nouchy M, Lecerf L, Cornet D, Brisset S, Goossens M, Tachdjian G.
    Small supernumerary marker chromosomes derived from chromosomes 6 and 20 in a woman with recurrent spontaneous abortions.
    Eur J Med Genet. 2012 Dec;55(12):737-742.
  45. Hochstenbach R, van Gijn ME, Krijtenburg PJ, Raemakers R, van 't Slot R, Renkens I, Eleveld MJ, van der Smagt JJ, Poot M.
    Gain of FAM123B and ARHGEF9 in an obese man with intellectual disability, congenital heart defects and multiple supernumerary ring chromosomes.
    Mol Syndromol. 2013 Jan;3(6):274-283.
  46. Zolotukhina TV, Shilova NV, Judina EV, Minzhenkova ME, Kozlova YO.
    Small supernumerary marker chromosomes (sSMC) detected prenatally.
    Europ J Hum Genet 2013, Vol. 21 Suppl 2, p 592 (Abstractnr. J19.50).
  47. 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.
  48. Davidsson J, Jahnke K, Forsgren M, Collin A, Soller M.
    dup(19)(q12q13.2): array-based genotype-phenotype correlation of a new possibly obesity-related syndrome.
    Obesity (Silver Spring). 2010 Mar;18(3):580-587.
  49. 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.
  50. 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.
  51. Schwanitz G, Hagh JK, Rad IA, Omrani MD, Gamerdinger U, Schubert R, Elbracht M, Eggermann T, Eggermann K, Spengler S, Schüler H, Gogiel M.
    Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: Characterization and evaluation of the aberrations.
    Am J Med Genet A. 2014 Mar;164(3):736-740.
  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. Penton AL, Burnside RD, Gadi I, Jaswaney V, Schwartz S, Phillips K, Schleede JB, Tepperberg JH, Whiley J, Papenhausen P.
    Cytogenetic characterization of 2 patients with supernumerary marker chromosomes (sSMCs) derived from complex genetic rearrangements.
    Abstracts of the 64th annual meeting of the American Society of Human Genetics, 18.-22. 10. 2014, p807 (Abstractno. 3160T)
  54. Hochstenbach R, Nowakowska B, Volleth M, Ummels A, Kutkowska-Kaźmierczak A, Obersztyn E, Ziemkiewicz K, Gerloff C, Schanze D, Zenker M, Muschke P, Schanze I, Poot M, Liehr T.
    Multiple small supernumerary marker chromosomes resulting from maternal meiosis I or II errors.
    Mol Syndromol. 2015 Feb;6(5):210-21.
  55. 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.
  56. 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.
  57. Bertini V, Giuliani C, Ferreri MI, Orsini A, Bonuccelli A, Peroni D, Bonaglia C, Valetto A.
    A prenatal case with multiple supernumerary markers identified as derivatives of chromosomes 13, 15, and 20: molecular cytogenetic characterization and review of the literature.
    J Matern Fetal Neonatal Med
    . 2019 Oct 1;1-5.
  58. 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.
  59. Čulić V, Lasan-Trcić R, Liehr T, Lebedev IN, Pivić M, Pavelic J, Vulić R.
    A familial small supernumerary marker chromosome 15 associated with cryptic mosaicism with two different additional marker chromosomes derived de novo from chromosome 9: Detailed case study and implications for recurrent pregnancy loss.
    Cytogenet Genome Res
    . 2018;156(4):179-184.
  60. Zhang J, Jiang Y, Cai M, Ge Y, Zhou Y, Wang W.
    [Prenatal diagnosis of a fetus with two small supernumerary marker chromosomes].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi
    . 2019 Dec 10;36(12):1222-1225.
  61. He Y, Liao JJ, Liu YL, Wen J, Lou JW.
    Tetrasomy 18p Case Report.
    Clin Lab. 2020 Jan 1;66(1).
  62. Giansante R, Palka Bayard De Volo C, Alfonsi M, Morizio E, Guanciali Franchi P.
    First case of two supernumerary markers derived from chromosome 5 and chromosome 8.
    Mol Cytogenet. 2022 Jun 27;15(1):26.