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首页> 外文期刊>American journal of medical genetics, Part A >3p14 deletion is a rare contiguous gene syndrome: Report of 2 new patients and an overview of 14 patients
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3p14 deletion is a rare contiguous gene syndrome: Report of 2 new patients and an overview of 14 patients

机译：3p14缺失是一种罕见的连续基因综合征：2例新患者的报告和14例患者的概述

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摘要

Interstitial deletions of chromosome 3p14p12 are a rare chromosome rearrangement. Twenty-six patients have been reported in the literature to date, however, a specific clinical phenotype has not yet been delineated. We describe three patients (two new) with overlapping chromosome 3p14p12 deletions and review the clinical and molecular data of 11 well-characterized, published cases. These patients had a number of features in common, such as short stature, failure to thrive, facial dysmorphism, congenital heart defects, urogenital abnormalities, neurological problems, hearing loss, and global developmental delay, suggesting that the interstitial chromosome 3p14p12 deletion gives rise to a multiple congenital anomaly syndrome. Some of the patients show clinical overlap with other complex syndromes such as CHARGE syndrome. Genotype-phenotype analysis revealed candidate genes for parts of the clinical features suggesting that the 3p14 deletion is a contiguous gene syndrome. (c) 2015 Wiley Periodicals, Inc.
机译：染色体3p14p12间质性缺失是罕见的染色体重排。迄今为止，已有文献报道了26位患者，但是尚未描述具体的临床表型。我们描述了3个重叠染色体3p14p12缺失的患者（两个新患者），并回顾了11个特征明确的已发表病例的临床和分子数据。这些患者具有许多共同特征，例如身材矮小，无法壮成长，面部畸形，先天性心脏缺陷，泌尿生殖系统异常，神经系统问题，听力下降和整体发育迟缓，提示间质染色体3p14p12缺失会导致多发性先天性异常综合征。一些患者表现出与其他复杂综合征（如CHARGE综合征）的临床重叠。基因型-表型分析揭示了部分临床特征的候选基因，提示3p14缺失是一种连续的基因综合征。 （c）2015年威利期刊有限公司

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