Characterisation of small supernumerary marker chromosomes (sSMC) in human

被引：15

作者：

Liehr, T

Mrasek, K

Weise, A

Kuechler, A

von Eggeling, F

Claussen, U

Starke, H

机构：

[1] Inst Human Genet & Anthropol, Jena, Germany

[2] Clin Radiol, Dept Radiotherapy, Jena, Germany

来源：

CURRENT GENOMICS | 2004年 / 5卷 / 03期

关键词：

small supernumerary marker chromosome (sSMC); ESAC; ring chromosome; fluorescence in situ hybridisation (FISH); classification of sSMC; clinical relevance;

D O I：

10.2174/1389202043349354

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Small supernumerary marker chromosomes (sSMC) in human are present in 0.043% of newborn children. They call be defined as additional centric chromosome fragments smaller than chromosome 20. sSMC include cases with the i(18p)- the i(12p)- (i.e. Pallister Killian-) or the inv dup(22)- (i.e. cat-eye-) syndrome. However, about 30% of the remaining sSMC are not yet correlated with clinical syndromes. mostly due to problems in comprehensive characterisation of the sSMC. Here we present all overview of the approaches for sSMC characterisation and Suggest a strategy for a straightforward and comprehensive characterisation of the marker chromosomes in question.

引用

页码：279 / 286

页数：8

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