Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14).

Gene ·第 529 卷 ·第 2 期 ·2013-11-12

Chen Chih-Ping, Lee Meng-Ju, Chern Schu-Rern, Wu Peih-Shan, Su Jun-Wei, Chen Yu-Ting, Lee Meng-Shan, Wang Wayseen

摘要

We present prenatal diagnosis of de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14) and molecular cytogenetic characterization of the deletion using uncultured amniocytes. We review the phenotypic abnormalities of previously reported patients with similar proximal interstitial 4p deletions, and we discuss the functions of the genes of RBPJ, CCKAR, STIM2, PCDH7 and ARAP2 that are deleted within this region.

关键词

4p14-p15.2 BAC FISH Interstitial 4p deletion OMIM Online Mendelian Inheritance in Man Prenatal diagnosis QF-PCR WHS Wolf-Hirschhorn syndrome aCGH array comparative genomic hybridization bacterial artificial chromosome del deletion fluorescence in situ hybridization quantitative fluorescent polymerase chain reaction

文献信息

期刊

Gene

期刊简称

Gene

ISSN

0378-1119

DOI

10.1016/j.gene.2013.07.063

发表日期

2013-11-12

收录日期

2013-09-16

更新日期

2013-09-16

语言

英语

国家/地区

Netherlands

NLM ID

7706761

外部链接

PubMed 原文 DOI: 10.1016/j.gene.2013.07.063 查看期刊详情

分析服务

Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14).

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