A further case with a small supernumerary marker chromosome (sSMC) derived from chromosome 1 - evidence for high variability in mosaicism in different tissues of sSMC carriers

被引：30

作者：

Fickelscher, Ina

Starke, Heike

Schulze, Eberhard

Ernst, Guenther

Kosyakova, Nadezda

Mkrtchyan, Hasmik

MacDermont, Kay

Sebire, Neil

Liehr, Thomas

机构：

[1] Inst Human Genet & Anthropol, D-07740 Jena, Germany

[2] Inst Pathol, Jena, Germany

[3] NHS Trust, NW London Hosp, Harrow, Middx, England

[4] Great Ormond St Hosp Sick Children, London WC1N 3JH, England

来源：

PRENATAL DIAGNOSIS | 2007年 / 27卷 / 08期

关键词：

small supernumerary marker chromosome (sSMC); mosaicism; molecular cytogenetics; interphase FISH;

D O I：

10.1002/pd.1776

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A prenatally ascertained case with a de novo small supernumerary marker chromosome (sSMC) derived from chromosome I is reported. Due to a fetal heart defect the parents decided in favour of an induced abortion. Postmortem, a molecular cytogenetic study on eleven formalin fixed, paraffin-embedded tissues of the fetus was performed, to further characterize the levels of mosaicism of the sSMC(l). sSMC presence varied between 13 and 62% within different tissues of sSMC carriers. This finding is something common in sSMC carriers and could explain why up to the present no clinical correlations for sSMC mosaicism and clinical outcome in the corresponding carriers could be established. Copyright (c) 2007 John Wiley & Sons, Ltd.

引用

页码：783 / 785

页数：3

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