Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.

缩小 13q14.2 - q14.3 微缺失内过度生长的关键区域。

• 影响指数: 2.465
• 发表时间: Nov 2015
• 来源期刊: Eur J Med Genet
• DOI: 10.1016/j.ejmg.2015.10.006
• PMID: 26475974
• 文章类型: Case Reports
• 中科院分区: Q3
• 方向: 生物
• 作者列表: Kamien B,Digilio MC,Novelli A,O'Donnell S,Bain N,Meldrum C,Dudding-Byth T,Scott RJ,Goel H

关键词: ALG11; CKAP2; Chromosomal microdeletion; Chromosome 13q14.2; Chromosome 13q14.3; DHRS12; DLEU7; INTS6; LECT1; Macrocephaly; OLFM4; Overgrowth; PCDH8; SUGT1; THSD1; Tall stature; UTP14C; VPS36

Mesh: Adolescent; Child; Chromosome Deletion; Chromosomes, Human, Pair 13 / genetics; Growth Disorders / diagnosis genetics; Heart Diseases / diagnosis genetics; Humans; Intellectual Disability / diagnosis genetics; Male; Megalencephaly / diagnosis genetics; Syndrome

Abstract

Large chromosomal deletions from 13q13.3 to 13q21.3 have previously been associated with overgrowth. We present two patients with deletions at 13q14.2q14.3 who have macrocephaly, tall stature relative to their parents, cardiac phenotypes, and intellectual disability. This report narrows the critical region for tall stature, macrocephaly, and possibly cardiac disease.

摘要

以前，从13q13.3到13q21.3的大染色体缺失与过度生长有关。我们介绍了两名13q14.2q14.3缺失的患者，相对于他们的父母来说，身材高大，心脏表型，智力残疾。这份报告缩小了身高的关键区域，大头畸形,可能还有心脏病.