ChromosOmics - Database

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                                                     - REFERENCES for #7 -                                                              

      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 unpublished data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. Blennow E, Telenius H, Larsson C, de Vos D, Bajalica S, Ponder BA, Nordenskjold M.
    Complete characterization of a large marker chromosome by reverse and forward chromosome painting.
    Hum Genet. 1992 Dec;90(4):371-374.
  3. Wahlström J, Borsgard J, Sabel K-G.
    A case of trisomy 20?
    Clin Genet. 1976 Feb;9(2):187-191.
  4. 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.
  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. Miyoshi O, Kondoh T, Taneda H, Otsuka K, Matsumoto T, Niikawa N.
    47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region.
    J Med Genet. 1999 Apr;36(4):326-329.
  7. Tan-Sindhunata G, Castedo S, Leegte B, Mulder I, vd Veen AY, vd Hout AH, Wiersma TJ, van Essen AJ.
    Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype.
    Am J Med Genet. 2000 May 15;92(2):147-152.
  8. Velagaleti GV, Jalal SM, Kukolich MK, Lockhart LH, Tonk VS.
    De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature.
    Clin Genet. 2002 Mar;61(3):202-206.
  9. 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.
  10. 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.
  11. Wakeling EL, Hitchins M, Stanier P, Monk D, Moore GE, Preece MA.
    Silver-Russell syndrome and ring chromosome 7.
    J Med Genet. 2000 May;37(5):380.
  12. Lamb AN, Estabrookes LL, Legator MS, Ramakrishnan R, Poole I, Piper J, Morrison LE.
    Combinatorial 24 chromosome multicolor FISH for the identification of constitutional abnormalities: unbalanced translocations and analphoid marker chromosomes.
    Am J Hum Genet 1998; 63(Suppl.):A142.
  13. 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.
  14. Vorsanova SG, Yurov YB, Soloviev IV, Demidova IA, Malet P.
    Rapid identification of marker chromosomes by in situ hybridization under different stringency conditions.
    Anal Cell Pathol. 1994 Oct;7(3):251-258.
  15. Lichtenbelt KD, Hochstenbach R, van Dam WM, Eleveld MJ, Poot M, Beemer FA.
    Supernumerary ring chromosome 7 mosaicism: Case report, investigation of the gene content, and delineation of the phenotype.
    Am J Med Genet A. 2005;132A(1):93-100.
  16. Chantot-Bastaraud S, Muti C, Pipiras E, Routon MC, Roubergue A, Burglen L, Siffroi JP, Simon-Bouy B.
    Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases.
    Ann Genet. 2004;47(3):241-249.
  17. Warburton PE.
    Chromosomal dynamics of human neocentromere formation.
    Chromosome Res. 2004;12(6):617-626.
  18. 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)
  19. Lebbar A, Tatau J, Cuisset L, le Dû N, Letessier D, Rabineau D, Dupont JM.
    Prenatal diagnosis of a de novo small supernumerary ring chromosomes 7.
    Chromosome Res 2005; 13 suppl. 1, 135 (Abstractnr. 7.36-P)
  20. von Beust G, Sauter SM, Liehr T, Burfeind P, Bartels I, Starke H, von Eggeling F, Zoll B.
    Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay.
    Am J Med Genet A. 2005; 137(1):59-64.
  21. Eggermann T, Krause-Plonka I, Wollmann HA, Zerres K, Dai G, Meyer E, Bartsch O.
    Supernumerary marker chromosome 7 and maternal uniparental disomy 7 in a boy with growth retardation and triangular face.
    Clin Dysmorphol. 2006 Jan;15(1):9-12.
  22. 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.
  23. 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.
  24. 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.
  25. 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).
  26. Combi R, Sala E, Villa N, Crosti F, Beccaria L, Cogliardi A, Tenchini ML, Dalprà L.
    Maternal heterodisomy/isodisomy and paternal supernumerary ring of chromosome 7 in a child with Silver-Russell syndrome.
    Clin Dysmorphol. 2008 Jan;17(1):35-39.
  27. 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.
  28. Schinzel A.
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 321-325.
  29. Joyce CA, Sharp A, Walker JM, Bullman H, Temple IK.
    Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome.
    Hum Genet. 1999 Sep;105(3):273-280.
  30. Monk D, Wakeling EL, Proud V, Hitchins M, Abu-Amero SN, Stanier P, Preece MA, Moore GE.
    Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome.
    Am J Hum Genet. 2000 Jan;66(1):36-46.
  31. Schinzel A.
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 331-335.
  32. Bertini V, Valetto A, Uccelli A, Bonuccelli A, Tarantino E, Taddeucci G, Simi P.
    Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: report of a new patient.
    Am J Med Genet A. 2008 Nov 15;146A(22):2955-2959.
  33. Gruchy N, Lebrun M, Herlicoviez M, Alliet J, Gourdier D, Kottler ML, Mittre H, Leporrier N.
    Supernumerary marker chromosomes management in prenatal diagnosis.
    Am J Med Genet A. 2008 Nov 1;146A(21):2770-2776.
  34. Guettard E, Portnoi MF, Lohmann-Hedrich K, Keren B, Rossignol S, Winkler S, El Kamel I, Leu S, Apartis E, Vidailhet M, Klein C, Roze E.
    Myoclonus-dystonia due to maternal uniparental disomy.
    Arch Neurol. 2008 Oct;65(10):1380-1385.
  35. Ghoumid J, Aboura A, Perrin L, Verloes A, Baumann C.
    Williams Beuren critical region duplication due to a supernumerary marker in a patient with autism and severe behavioural disturbance.
    Europ J Hum Genet 2010, Vol 18 Suppl 1: 130 (Abstractnr. P03.125).
  36. Christacos N, Schonberg S, Dai Z, Boles D, Kelly J, Solvak ML, Burks K, Simanivanh T, Mowrey P.
    IsoUPD as a mechanism of fetal rescue detected by Oligo-SNP array.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 1269W.
  37. 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.
  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. Al-Achkar W, Wafa A, Assaad M, Ehlers C, Liehr T.
    A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7.
    Mol Med Rep. 2013; 7:1545-1548.
  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. 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.
  43. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.
  44. Margarit E, Obón M, Rodríguez L, Soler A, Viedma Y, Sánchez A.
    Supernumerary ring chromosome 7 in mosaic. Molecular cytogenetic analysis and clinical findings.
    Europ J Hum Genet 2015, 23 Suppl 1: p232 (Abstractno: PM11.121).
  45. Marques B, Brito F, Alves C, Pedro S, Ferreira C, Amorim M, Correia H.
    Characterization of a rare analphoid supernumerary marker chromosome in mosaic.
    Chromosome Res 2015, 23,Suppl 1: S67-68 (Abstractno: 1.P67).
  46. Louvrier C, Egea G, Labalme A, Des Portes V, Gazzo S, Callet-Bauchu E, Till M, Sanlaville D, Edery P, Schluth-Bolard C.
    Characterization of a de novo supernumerary neocentric ring chromosome derived from chromosome 7.
    Cytogenet Genome Res    . 2015;147(2-3):111-7.
  47. Marques B, Ferreira C, Brito F, Pedro S, Alves C, Lourenço T, Amorim M, Correia H.
    Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report.
    Mol Cytogenet. 2016 Nov 25;9:87.
  48. Chen CP, Chen M, Hwu YM, Chang SP, Chen SW, Lai ST, Lee CC, Wang W.
    Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 7 in the male partner of a phenotypically normal couple with repeated spontaneous abortions.
    Taiwan J Obstet Gynecol. 2017 Jun;56(3):410-411.
  49. 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.
  50. 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.