ChromosOmics - Database

Icon by Leon Liehr                   

                                                     - REFERENCES for #6 -                                                              

      0. Liehr et al. unpublished data
  1. James RS, Temple IK, Dennis NR, Crolla JA.
    A search for uniparental disomy in carriers of supernumerary marker chromosomes.
    Eur J Hum Genet. 1995;3(1):21-26.
  2. Temple IK, James RS, Crolla JA, Sitch FL, Jacobs PA, Howell WM, Betts P, Baum JD, Shield JP.
    An imprinted gene(s) for diabetes?
    Nat Genet. 1995 Feb;9(2):110-112.
  3. 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.
  4. 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.
  5. 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.
  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. 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.
  8. Hastings RJ, Nisbet DL, Waters K, Spencer T, Chitty LS.
    Prenatal detection of extra structurally abnormal chromosomes (ESACs): new cases and a review of the literature.
    Prenat Diagn. 1999 May;19(5):436-445.
  9. 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.
  10. 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.
  11. Huang B, Pearle P, Philipson J, Cotter P.
    Prenatal diagnosis of supernumerary marker chromosomes derived from chromosome 6.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 177  (Abstractnumber 892).
  12. de Blois M, Sanlaville D, Bachelot A, Ozilou C, Chevallier S, Waill-Perrier MC, Romana S, Vekemans M, Turleau C.
    Stable ring chromosome 6 due to a centromeric fission.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 175  (Abstractnumber 877).
  13. Villa O, del Campo M, Salido M, Gener B, Astier L, del Valle J, Serrano S, Érez-Jurado L, Solé F.
    Cytogenetic characterization of a marker chromosome including 6p in a child with craniosystosis.
    Chromosome Res 2005; 13 suppl. 1: 65 (Abstractnr. 1.118-P)
  14. Sala E, Crosti F, Villa N, Oldrini A, Lalatta F, Gandolfi P, Gautiero E, Solano R, Dalprà L.
    First report of a supernumerary marker chromosome 6.
    Chromosome Res 2005; 13 suppl. 1:131 (7.26-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. Qin N, Bartley J, Wang J, Jogenson J, Warburton PE.
    A neocentromere derived from a supernumerary marker deleted from the long arm of chromosome 6.
    Abstracts of the 55th annual meeting of the American Society of Human Genetics, 25.-29. 10. 2005, p166 (Abstractno. 829)
  17. 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.
  18. Oldak M, Waligora J, Gieruszczak_Bialek D, Skorka A, Bocian E, Brycz-Witkowska J, Stankiewicz P, Korniszewski L.
    Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerrary marker.
    Genet Counsel 2006; 19(1): 27-32.
  19. 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.
  20. Leite RP, Souto M, Carvalho B, Martins M, Chaves R, Morais A, Guedes-Pinto H, Wienberg J, Ribeiro E.
    Identification, characterization and clinical implications of two markers detected at prenatal diagnosis.
    Prenat Diagn. 2006 Oct;26(10):920-924.
  21. 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.
  22. Villa O, Del Campo M, Salido M, Gener B, Astier L, Del Valle J, Gallastegui F, Perez-Jurado LA, Sole F.
    Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis.
    Am J Med Genet A. 2007 Apr 12;143A(10):1108-1113.
  23. 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.
  24. Qin N, Bartley J, Wang JC, Warburton PE.
    A neocentromere derived from a supernumerary marker deleted from the long arm of chromosome 6.
    Cytogenet Genome Res. 2007;119(1-2):154-157.
  25. 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.
  26. Fogu G, Bandiera P, Cambosu F, Carta AR, Pilo L, Serra G, Soro G, Tondi M, Tusacciu G, Montella A.
    Pure partial trisomy of 6p12.1-p22.1 secondary to a familial 12/6 insertion in two malformed babies.
    Eur J Med Genet. 2007 Mar-Apr;50(2):103-111.
  27. Engelen JJ, Marcelis CL, Alofs MG, Loneus WH, Pulles-Heintzberger CF, Hamers AJ.
    De novo "pure" partial trisomy (6)(p22.1-->pter) in a chromosome 15 with an enlarged satellite, identified by microdissection.
    Am J Med Genet. 2001 Feb 15;99(1):48-53.
  28. Chiyo H, Kuroki Y, Matsui I, Yanagida K, Nakagome Y.
    A 6p trisomy detected in a family with a "giant satellite".
    Humangenetik. 1975 Oct 20;30(1):63-67.
  29. Giardino D, Finelli P, Caufin D, Gottardi G, Lo Vasco R, Turolla L, Larizza L.
    Pure 6p22-pter trisomic patient: refined FISH characterization and genotype-phenotype correlation.
    Am J Med Genet. 2002 Feb 15;108(1):36-40.
  30. Trifonov V, Seidel J, Starke H, Martina P, Beensen V, Ziegler M, Hartmann I, Heller A, Nietzel A, Claussen U, Liehr T.
    Enlarged chromosome 13 p-arm hiding a cryptic partial trisomy 6p22.2-pter.
    Prenat Diagn. 2003 May;23(5):427-430.
  31. Giardino D, Rizzi N, Briscioli V, Bettio D.
    A de novo 6q11-q15 duplication investigated by chromosome painting.
    Clin Genet. 1994 Nov;46(5):377-379.
  32. 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.
  33. Schinzel A.
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 277-281.
  34. Villa A, Gomez EG, Rodríguez L, Rastrollo RH, Martínez Tallo ME, Martínez-Frías ML.
    Interstitial tandem duplication of 6p: a case with partial trisomy (6)(p12p21.3).
    Am J Med Genet. 2000 Feb 28;90(5):369-375.
  35. Parker EA, Hovanes K, Germak J, Porter F, Merke DP.
    Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome.
    Am J Med Genet A. 2006 Oct 15;140(20):2236-2240.
  36. Capozzi O, Purgato S, D'Addabbo P, Archidiacono N, Battaglia P, Baroncini A, Capucci A, Stanyon R, Della Valle G, Rocchi M.
    Evolutionary descent of a human chromosome 6 neocentromere: a jump back to 17 million years ago.
    Genome Res. 2009 May;19(5):778-784.
  37. Huang B, Pearle P, Rauen KA, Cotter PD.
    Supernumerary marker chromosomes derived from chromosome 6: Cytogenetic, molecular cytogenetic, and array CGH characterization.
    Am J Med Genet A. 2012 Jul;158A(7):1568-1573.
  38. 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.
  39. 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.
  40. 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.
  41. 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.
  42. 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.
  43. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.
  44. Carreira IM, Pinto MC, Jardim A, Ferreira SI, Simones L, Lavoura N, Mascarenhas A, Galhano E, Goncalves H, Ramos F, Melo JB.
    Molecular characterization of prenatally detected small supernumerary marker chromosomes: improving genotype phenotype correlations.
    Chromosome Res 2015, 23,Suppl 1: S114 (Abstractno: 3.P12).
  45. Jang W, Chae H, Kim J, Son JO, Kim SC, Koo BK, Kim M, Kim Y, Park IY, Sung IK.
    Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization.
    Mol Cytogenet. 2016 Aug 8;9:61.
  46. Hurd LM, Thacker MM, Okenfuss E, Duker AL, Lou Y, Harty MP, Conard K, Lian JB, Bober MB.
    Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients.
    Am J Med Genet A. 2017 Dec;173(12):3205-3210.
  47. 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.
  48. Syu YM, Ma JY, Ou TH, Lee CL, Lin HY, Lin SP, Lee CJ, Chen CP.
    De novo mosaic 6p23-p25.3 tetrasomy caused by a small supernumerary marker chromosome presenting trisomy distal 6p phenotype: A case report and literature review.
    Diagnostics (Basel). 2022 Sep 24;12(10):2306.
  49. Lesieur-Sebellin M, Marzin P, Arnoux JB, Maurin ML, Receveur A, Cantagrel V, Rose S, Dorval G, Levy J, Malan V.
    Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion.
    Eur J Med Genet. 2023 Oct;66(10):104848.