Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era

被引：35

作者：

Mefford, Heather C. ^{[1
]}

机构：

[1] Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

来源：

GENETICS IN MEDICINE | 2009年 / 11卷 / 12期

关键词：

Genomic disorder; array comparative genomic hybridization; phenotypic diversity; microdeletion syndrome; CONGENITAL HEART-DISEASE; COPY-NUMBER VARIATION; IDIOPATHIC GENERALIZED EPILEPSY; 17Q21.31 MICRODELETION SYNDROME; 22Q11.2 DELETION SYNDROME; CONTIGUOUS GENE DELETION; WILLIAMS-BEUREN-SYNDROME; MENTAL-RETARDATION; ARRAY-CGH; CHROMOSOMAL REARRANGEMENTS;

D O I：

10.1097/GIM.0b013e3181c175d2

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Recent advances in technology for detecting copy number changes have enabled genome-wide detection of submicroscopic deletions and duplications. As these technologies are applied to large cohorts of patients with diverse phenotypes, novel genomic disorders are defined by a common genotype (deletion or duplication) rather than a common phenotype. The discovery of new genomic disorders using this "genotype-first" approach has increased dramatically, and several recently described recurrent rearrangements are associated with a surprisingly wide range of phenotypes. This review will discuss the importance of genomic architecture for generating recurrent rearrangements, implications of the genotype-first approach for medical genetics, and features of several new genomic disorders with highly variable phenotypes. Genet Med 2009:11(12):836-842.

引用

页码：836 / 842

页数：7

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