Clinical Utility of Array Comparative Genomic Hybridization: Uncovering Tumor Susceptibility in Individuals with Developmental Delay

被引：25

作者：

Adam, Margaret P. ^{[1
]}

Justice, April N. ^{[1
]}

Schelley, Susan ^{[2
]}

Kwan, Andrea ^{[2
]}

Hudgins, Louanne ^{[2
]}

Martin, Christa L. ^{[1
]}

机构：

[1] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA USA

[2] Stanford Univ, Sch Med, Dept Pediat, Div Med Genet, Stanford, CA 94305 USA

来源：

JOURNAL OF PEDIATRICS | 2009年 / 154卷 / 01期

关键词：

MENTAL-RETARDATION; LI-FRAUMENI; GENE; DELETIONS;

D O I：

10.1016/j.jpeds.2008.07.045

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Microarray-based comparative genomic hybridization can determine genome-wide copy number alterations at the kilobase level. We highlight the clinical utility of microarray-based comparative genomic hybridization in determining tumor suseeptibility in 3 patients with dysmorphic features and developmental delay, likely decreasing both morbidity and mortality in these patients. (J Pediatr 2009,154:143-6)

引用

页码：143 / 146

页数：4

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