ChromosOmics - Database

Icon by Leon Liehr                   

                                                     - REFERENCES for #11 -                                                              

      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 unpublished data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, Raida M, Trifonov V, Clement JH, Loncarevic IF, Heller A, Bleck C, Nietzel A, Rubtsov N, Claussen U, Liehr T.
    Molecular cytogenetic characterization of an acquired minute supernumerary marker chromosome as the sole abnormality in a case clinically diagnosed as atypical Philadelphia-negative chronic myelogenous leukaemia.
    Br J Haematol. 2001 May;113(2):435-438
  3. 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.
  4. 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.
  5. Daniel A, Malafiej P.
    A Series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15.
    Am J Med Genet. 2003 Mar 15;117A(3):212-222.
  6. 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.
  7. Haaf T, Sumner AT, Köhler J, Willard HF, Schmid M, Summer AT.
    A microchromosome derived from chromosome 11 in a patient with the CREST syndrome of scleroderma.
    Cytogenet Cell Genet. 1992;60(1):12-17. Erratum in: Cytogenet Cell Genet 1992;61(3):following 223.
  8. Depinet TW, Zackowski JL, Earnshaw WC, Kaffe S, Sekhon GS, Stallard R, Sullivan BA, Vance GH, Van Dyke DL, Willard HF, Zinn AB, Schwartz S.
    Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA.
    Hum Mol Genet. 1997 Aug;6(8):1195-1204.
  9. Choo KH.
    Centromere DNA dynamics: latent centromeres and neocentromere formation.
    Am J Hum Genet. 1997 Dec;61(6):1225-1233.
  10. Amor DJ, Choo KH.
    Neocentromeres: role in human disease, evolution, and centromere study.
    Am J Hum Genet. 2002 Oct;71(4):695-714.
  11. Shaffer LG, Agan N, Goldberg JD, Ledbetter DH, Longshore JW, Cassidy SB.
    American College of Medical Genetics statement of diagnostic testing for uniparental disomy.
    Genet Med. 2001 May-Jun;3(3):206-211.
  12. Leung WC, Waters JJ, Chitty L.
    Prenatal diagnosis by rapid aneuploidy detection and karyotyping: a prospective study of the role of ultrasound in 1589 second-trimester amniocenteses.
    Prenat Diagn. 2004 Oct;24(10):790-795.
  13. Warburton PE.
    Chromosomal dynamics of human neocentromere formation.
    Chromosome Res. 2004;12(6):617-626.
  14. 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)
  15. 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):1192-204.
  16. Kozlowski P, Grund I, Hickmann G, Stressig R, Knippel AJ.
    Quantitative fluorescent polymerase chain reaction versus cytogenetics: risk-related indication and clinical implication of nondetected chromosomal disorders.
    Fetal Diagn Ther. 2006;21(2):217-223.
  17. 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.
  18. 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)
  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. 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.
  21. Chuang L, Wakui K, Sue WC, Su MH, Shaffer LG, Kuo PL.
    Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome.
    Am J Med Genet A. 2005 Mar 1;133(2):180-183.
  22. Strobel RJ, Riccardi VM, Ledbetter DH, Hittner HM.
    Duplication 11p11.3 leads to 14.1 to meiotic crossing--over.
    Am J Med Genet. 1980;7(1):15-20.
  23. Jehee FS, Bertola DR, Yelavarthi KK, Krepischi-Santos AC, Kim C, Vianna-Morgante AM, Vermeesch JR, Passos-Bueno MR.
    An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses.
    Am J Med Genet A. 2007 Aug 15;143A(16):1912-1918.
  24. Till M, Rafat A, Charrin C, Plauchu H, Germain D.
    Duplication of chromosome 11 centromere in fetal and maternal karyotypes: a new variant?
    Prenat Diagn. 1991 Jul;11(7):481-482.
  25. Kieback P, Hennig C, Jauch A, Liehr T.
    Prenatal diagnosis of a direct intrachromosomal duplication 11p12->11q11.2~12.1, a one year follow up.
    MedGen 2007, 19: 83 (Abstractnr. P080).
  26. Mannens M, Hoovers JM, Bleeker-Wagemakers EM, Redeker E, Bliek J, Overbeeke-Melkert M, Saunders G, Williams B, van Heyningen V, Junien C, Haber D, Speleman F, Heyting C, Slater RM, Leschot NJ, Westerland A.
    The distal region of 11p13 and associated genetic diseases.
    Genomics. 1991 Oct;11(2):284-293.
  27. Guichet A.
    Pericentromeric 11p11 duplication in a girl with isolated learning disability, particularly dyscalculia.
    Chromosome Res 2005; 13 suppl. 1, 32 (abstract 1.39-P)
  28. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 503-504.
  29. Goossens E, Cayenberghs R, Fryns JP.
    Moderate mental retardation without dysmorphic symptoms in intrachromosomal 11p12 duplication.
    Genet Couns. 1999;10(2):137-140.
  30. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 511-514.
  31. 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.
  32. Metay C, Lecerf L, ToscaL, Briand-Suleau A, Ortonne V, Serero S, Kleinfinger P, Giurgea I, Goossens M, Amram D.
    Rare modes of paternal malsegregation of a translocation t(11;13)(q25;q14) in two patients with intellectual disability
    Chromosome Res 2011, Vol 19 (Suppl. 1), pp S100-101 (Abstractnr. 1.P114)
  33. Thangavelu M, Tepperberg JH, Hume J, Huang B.
    A 3.44 MB interstitial duplication of chromosome 3 with no apparent phenotype detected by SNP array.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 1257T.
  34. Silveira-Santos R, Sousa  AC, Avila M, Serafim S, Custódio S, Sousa AB, Cordeiro I.
    Back to the karyotype: a case of mosaic marker chromosome 11 detected by aCGH.
    Europ J Hum Genet 20 (Suppl. 1), p, Abstractnr. P03.013).
  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. 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.
  37. 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.
  38. 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.
  39. 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.
  40. 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.
  41. 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.
  42. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.
  43. Chen CP, Chen M, Wang PT, Chern SR, Chen SW, Lai ST, Wu PS, Chang SP, Pan CW, Wang W.
    Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 11.
    Taiwan J Obstet Gynecol. 2017 Jun;56(3):394-397.
  44. Huang MH, Lee C, Chang JS, Wang HC, Lai HL, Chang CC, Chen TW, Li YF, Lin TT, Yang CY, Ho SP.
    Retrospectively investigating the 12-year experience of prenatal diagnosis of small supernumerary marker chromosomes through array comparative genomic hybridization.
    Taiwan J Obstet Gynecol    . 2019 Jan;58(1):139-144.
  45. 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.
  46. Joshi A, Lall M, Agarwal S, Paliwal P, Saviour P, Mahajan S, Puri R, Bijarnia S, Verma I.
    Molecular characterization of supernumerary marker chromosomes found as unexpected chromosome abnormalities in nine prenatal and nine postnatal samples.
    Obstet Gynecol Int J. 2019;10(3):211‒221.
  47. Liehr T, Ziegler M, Person L, Kankel S, Padutsch N, Weise A, Weimer JP, Williams H, Ferreira S, Melo JB, Carreira IM.
    Small supernumerary marker chromosomes derived from human chromosome 11.
    Front Genet. 2023 Dec 15;14:1293652.
  48. Chen X, Xu H, Shi W, Wang F, Xu F, Zhang Y, Gan J, Tian X, Chen B, Dai M.
    11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies.
    BMC Med Genomics. 2021 Apr 9;14(1):99.
  49. Kontodiou M, Paspaliaris V, Dagklis T, Siomou E, Al-Rikabi, AH, Tsita K, Stavroulaki T, Pampanos A, Zavlanos A, Papaioannou G, Papoulidis I, Thomaidis L,  Manolakos E.
    Identification of a small supernumerary marker chromosome involving 11p14.1q12.1 in a prenatal case: Clinical and molecular characterization.
    OBM Transplant. 2018; 2, 1803035.