ChromosOmics - Database

Icon by Leon Liehr                  

              - REFERENCES Aneusomy GONOSOMAL -               

      0. Liehr et al. unpublished data
  1. 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.
  2. 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.
  3. 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.
  4. Papoulidis I, Kontodiou M, Tzimina M, Saitis I, Hamid AB, Klein E, Kosyakova N, Kordaß U, Kunz J, Siomou E, Nicolaides P, Orru S, Thomaidis L, Liehr T, Petersen MB, Manolakos E.
    Tetrasomy 9p mosaicism associated with a normal phenotype in two cases.
    Cytogenet Genome Res 2012, 136:237-241.
  5. Galanina EM, Tulupov AA, Lemskaya NA, Korostyshevskaya AM, Maksimova YV, Shorina AR, Savelov AA, Sergeeva IG, Isanova ER, Grishchenko IV, Yudkin DV.
    A female patient with FMR1 premutation and mosaic X chromosome aneuploidy and two sons with intellectual disability.
    Mol Syndromol. 2017 Mar;8(2):110-114.
  6. 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.
  7. Liehr T, Mrasek K, Starke H, Claussen U, Schreiber G.
    Unusual small supernumerary marker chromosome (sSMC) 9 in a Klinefelter patient.
    Cytogenet Genome Res. 2005;111(2):179-181.
  8. 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.
  9. Polityko AD, Lazjuk GI, Liehr T.
    High resolution molecular cytogenetic approaches and study of marker chromosomes.
    Medica Genetics 2008, 7(3):34-40. (in Russian)
  10. Van Opstal D, Boter M, Noomen P, Srebniak M, Hamers G, Galjaard RJ.
    Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis.
    Mol Cytogenet 2011; 4:2.
  11. Lee-Jones L, Williams T, Little E, Sampson J.
    Trisomy 14pter --> q21: a case with associated ovarian germ cell tumor and review of the literature.
    Am J Med Genet. 2004 Jul 1;128A(1):78-84.
  12. Jardim A, Mascarenhas A, Pinto M, Matoso E, Melo J, Maia S, Branco M, Carreira I.
    A prenatal case with aneuploidy, duplöication and a SMC: do bad things really come in threes?
    Chromosome Res 2011, Vol 19 (Suppl. 1), pp S227 (Abstractnr. 10.P49 - information from poster).
  13. Manea SR, Gershin IF, Babu A, Willner JP, Desnick RJ, Cotter PD.
    Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth-retarded male: mos47,XXY/48,XXY, +r(X).
    Clin Genet. 1997 Dec;52(6):432-435.
  14. Mrasek K, Starke H, Liehr T.
    Another small supernumerary marker chromosome (sSMC) derived from chromosome 2 - towards a genotype/ phenotype correlation.
    J Histochem Cytochem, 2005, 53(3): 367-370.
  15. 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.
  16. Sheth F, Ewers E, Kosyakova N, Weise A, Sheth J, Desai M, Andrieux J, Vermeesch J, Hamid AB, Ziegler M, Liehr T.
    A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report.
    Mol Cytogenet. 2009 Nov 12;2:22.
  17. Gray BA, Bent-Williams A, Wolff DJ, Zori RT.
    A non-sex chromosome marker in a patient with an atypical Ullrich-Turner phenotype and mosaicism of 46,X,mar/46,XX.
    Clin Genet. 2001;60(1):73-76.
  18. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.
  19. Saberzadeh J, Miri MR, Dianatpour M, Behzad Behbahani A, Tabei MB, Alipour M, Faghihi MA, Fardaei M.
    The first case of a small supernumerary marker chromosome 18 in a Klinefelter fetus: A case report.
    Iran J Med Sci
    . 2019 Jan;44(1):65-69.