The Utility of Chromosomal Microarray Analysis in Developmental and Behavioral Pediatrics

被引：69

作者：

Beaudet, Arthur L. ^{[1
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

来源：

CHILD DEVELOPMENT | 2013年 / 84卷 / 01期

关键词：

COMPARATIVE GENOMIC HYBRIDIZATION; AUTISM SPECTRUM DISORDERS; COPY-NUMBER; ARRAY-CGH; MENTAL-RETARDATION; DE-NOVO; PSYCHIATRIC-DISORDERS; CLINICAL-SIGNIFICANCE; READING DIFFICULTIES; LANGUAGE IMPAIRMENT;

D O I：

10.1111/cdev.12050

中图分类号：

G44 [教育心理学];

学科分类号：

0402 ; 040202 ;

摘要：

Chromosomal microarray analysis (CMA) has emerged as a powerful new tool to identify genomic abnormalities associated with a wide range of developmental disabilities including congenital malformations, cognitive impairment, and behavioral abnormalities. CMA includes array comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) arrays, both of which are useful for detection of genomic copy number variants (CNV) such as microdeletions and microduplications. The frequency of disease-causing CNVs is highest (20%25%) in children with moderate to severe intellectual disability accompanied by malformations or dysmorphic features. Disease-causing CNVs are found in 5%10% of cases of autism, being more frequent in severe phenotypes. CMA has replaced Giemsa-banded karyotype as the first-tier test for genetic evaluation of children with developmental and behavioral disabilities.

引用

页码：121 / 132

页数：12

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