Molecular karyotyping in clinical diagnosis

被引：2

作者：

Rauch, A. ^{[1
]}

机构：

[1] Univ Erlangen Nurnberg, Inst Humangenet, D-91054 Erlangen, Germany

来源：

MEDIZINISCHE GENETIK | 2008年 / 20卷 / 04期

关键词：

Molecular karyotyping; Array CGH; SNP array; Mental retardation; Microdeletion syndromes;

D O I：

10.1007/s11825-008-0135-6

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The term "molecular karyotyping" refers to the genome-wide analysis of copy number variations using arrays that cover the genome with genomic markers with varying density. Currently the main application is the investigation of patients with otherwise unexplained mental retardation and multiple congenital anomalies. Studies of such patients who remained without etiological diagnosis after conventional karyotyping, subtelomeric screening, and targeted molecular-cytogenetic studies for well-known microdeletion syndromes revealed chromosomal microaberrations in about 10% of cases and allowed the delineation of several new microdeletion and microduplication syndromes. Nevertheless, because of the large number of copy number polymorphisms, interpretation of unique findings needs thorough consideration.

引用

页码：386 / 394

页数：9

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