Neonatal Detection of 5p13.2 Duplication and Delineation of the Phenotype

被引：6

作者：

Carrascosa Romero, M. Carmen ^{[1
]}

Garcia Hoyo, Rosa ^{[2
]}

Calvente, Maria ^{[2
]}

Baquero Cano, Maria ^{[1
]}

Gonzalez Castillo, Llanos ^{[1
]}

Suela, Javier ^{[2
]}

机构：

[1] Univ Hosp Complex Albacete, Serv Pediat, Albacete, Spain

[2] NIMGenetics, Genom Lab, Madrid, Spain

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2012年 / 158A卷 / 04期

关键词：

array-CGH; duplication; 5p13.2; renal agenesis; arachnodactyly; corpus callosum dysgenesis; cerebral dysgenesis; hypotonia; cortical thumb; glutamate receptor; NIPBL; HUMAN GENOME; COPY NUMBER; CORNELIA; LANGE;

D O I：

10.1002/ajmg.a.35237

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A newborn boy with broad forehead, mild microretrognathia, large hands and feet, arachnodactyly and a cortical thumb also had left renal agenesis, dysgenesis of corpus callosum with psychomotor delay. After olignucleotide array comparative genomic hybridization (array-CGH) analysis, we detected a 900 kb duplication in cytoband 5p13.2, apperently a first clinical description. (C) 2012 Wiley Periodicals, Inc.

引用

页码：877 / 881

页数：5

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