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Clinical Corner: Case Report

The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype

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Pages 398-402 | Received 03 Mar 2015, Accepted 17 May 2015, Published online: 13 Aug 2015

References

  • Blennow, E. and Tillberg, E. (1996) Small extra ring chromosome derived from chromosome 10p: clinical report and characterization by FISH. J Med Genet 33:399–402
  • Chen, C.P., Chen, M., Ko, T.M., Ma, G.C., Tsai, F.J., Tsai, M.S., et al. (2010) Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 8. Taiwan J Obstet Gynecol 49:500–505
  • Chen, Z., Meloni-Erig, A., Palumbos, J.C., Guan, X.Y., Carroll, K.L., Dent, K.M., et al. (2001) Pure tirsomy 10p resulting from an extra ring chromosome: Characterization by methods of advanced molecular cytogenetics. Am J Med Genet 102:379–382
  • Guediche, N., Tosca, L. Nouchy, M., Lecerf, L., Cornet, D., Brisset, S., et al. (2012) Small supernumerary marker chromosomes derived from chromosomes 6 and 20 in a woman with recurrent spontaneous abortions. Eur J Med Genet 55:737–742
  • Huang, B., Solomon, S., Thangavelu, M., Peters, K. and Bhatt, S. (2006) Supernumeraray marker chromosomes detected in 100000 prenatal diagnoses: Molecular cytogenetic studies and clinical significance. Prenat Diagn 26:1142–1150
  • Levy, B., Papenhausen, P., Tepperberg, J., Dune, T., Fallet, S., Magid, M., et al. (2000) Prenatal molecular cytogenetic diagnosis of partial tetrasomy 10p due to neocentromere formation in an inversion duplication analphoid marker chromosome. Cytogenet Cell Genet 91:165–170
  • Liehr, T., Claussen, U. and Starke. H. (2004a) Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res 107:55–67
  • Liehr, T., Hickmann, G., Kozlowski, P., Claussen, U. and Starke, H. (2004b) Molecular-cytogenetic characterization of the origin and the presence of pericentromeric euchromatin on minute supernumerary marker chromosomes (SMCs). Chromosome Res 12:239–244
  • Liehr, T., Mrasek, K., Weise, A., Dufke, A., Rodriguez, L., Martinez Guardia, N., et al. (2006) Small supernumerary marker chromosomes:–progress towards a genotype-phenotype correlation. Cytogenet Genome Res 112:23–34
  • Liehr, T., Mrasek, K., Weise, A., Kuechler, A., von Eggeling, F., Claussen, U., et al. (2004c) Characterization of small supernumerary marker chromosomes (sSMC) in human. Current Genomics 5:279–28
  • Liehr, T. and Weise, A. (2007) Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med 19:719–731
  • Manvelyan, M., Riegel, M., Santos, M., Fuster, C., Pellestor, F., Mazaurik, M. L., et al. (2008) Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature. Int J Mol Med 21:705–714
  • Schlegel, M., Baumer, A., Riegel, M., Wiedemann, U. and Schinzel, A. (2002) Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus. Prenat Diagn 22:418–421
  • Snyder, F.F., Lin, C.C., Rudd, N.L., Shearer, J.E., Heikkila, E.M. and Ho, J.J. (1984) A de novo case of trisomy 10p: Gene dosage studies of hexokinase, inorganic pyrophosphatase and adenosine kinase. Hum Genet 67:187–189
  • Starke, H., Nietzel, A., Weise, A., Heller, A., Marsek, K., Belitz, B., et al. (2003) Small supernumerary marker chromosomes (SMCs): Genotype-phenotype correlation classification. Hum Genet 114:51–67
  • Sumption, N.D. and Barber, JC. (2001) A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities. J Med Genet 38:125–127
  • Sung, P.L., Chang, S.P., Wen, K.C., Chang, C.M., Yang, M.J., Chen, L.C., et al. (2009) Small supernumerary marker chromosome originating from chromosome 10 associated with an apparently normal phenotype. Am J Med Genet Part A 149A:2768–2774
  • Trimborn, M., Grueters, A., Neitzel, H. and Tönnies, H. (2005) First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature. Cytogenet Genome Res 108:278–282

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