Literature DB >> 23795458

Small supernumerary marker chromosomes (sSMC) - what about the genotype-phenotype correlation?

Th Liehr1, N Kosyakova.   

Abstract

Genotype-phenotype correlations in patients with small supernumerary marker chromosomes (sSMC) are still difficult to asses. Here we review the presently known influence of chromosomal imbalance induced by sSMC size and origin, mosaicism of sSMC in different cells of the body and uniparental disomy (UPD) of sSMC's sister chromosomes on the clinical outcome.

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Year:  2013        PMID： 23795458

Source DB:  PubMed          Journal:  Tsitologiia        ISSN： 0041-3771


  3 in total

1.  Cellular consequences of small supernumerary marker chromosome derived from chromosome 12: mosaicism in daughter and father.

Authors:  M O Freitas; A O Dos Santos; L S Barbosa; A F de Figueiredo; S P Pellegrini; N C K Santos; I S Paiva; A Rangel-Pozzo; L Sisdelli; S Mai; M G P Land; M G Ribeiro; M C M Ribeiro
Journal:  Braz J Med Biol Res       Date:  2022-06-22       Impact factor: 2.904

2.  Molecular cytogenetic characterization of a mosaic small supernumerary marker chromosome derived from chromosome Y in an azoospermic male: A case report.

Authors:  Hongguo Zhang; Xiangyin Liu; Dongfeng Geng; Fagui Yue; Yuting Jiang; Ruizhi Liu; Ruixue Wang
Journal:  Medicine (Baltimore)       Date:  2019-07       Impact factor: 1.817

Review 3.  Molecular Characterization of Mosaicism for a Small Supernumerary Marker Chromosome Derived from Chromosome Y in an Infertile Male with Apparently Normal Phenotype: A Case Report and Literature Review.

Authors:  Na An; Yang Yu; Qi Xi; Fagui Yue; Ruizhi Liu; Shibo Li; Ruixue Wang
Journal:  Biomed Res Int       Date:  2019-11-19       Impact factor: 3.411
  3 in total

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