6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype-Phenotype Correlation.

6q13q14.3 微缺失综合征伴重度低张和面部畸形 ： 基因型 - 表型相关性。

• 发表时间: 2023 Jun
• 来源期刊: J Pediatr Genet
• DOI: 10.1055/s-0040-1721739
• PMID: 37090827
• 文章类型: Case Reports
• 作者列表: Goyal M,Faruq M,Gupta A,Shrivastava D,Shamim U

关键词: 6q deletion; array CGH; hypotonia

Abstract

Hypotonia is a symptom of diminished tone of skeletal muscle and can be nongenetic or a part of genetic syndrome. Hypotonia, developmental delay, and facial dysmorphism are nonspecific findings observed in many genetic syndromes mostly in chromosomal microdeletion and duplication. Here we report a case with severe hypotonia and facial dysmorphism, diagnosed with deletion at 6q13q14.3 by array comparative genomic hybridization (CGH) at very early age. Recent genetic diagnostic technologies such as array CGH may enable clinicians to diagnose chromosomal abnormalities earlier and provide appropriate medical management.

摘要

张力减退是骨骼肌张力减弱的症状，可以是非遗传或遗传综合征的一部分。张力减退,发育迟缓,面部畸形是在许多遗传综合征中观察到的非特异性发现，主要是染色体微缺失和重复。在这里，我们报告了一个严重的张力减退和面部畸形的病例，通过阵列比较基因组杂交（CGH）在6q13q14.3诊断为缺失。最近的基因诊断技术如阵列CGH可以使临床医生更早地诊断染色体异常并提供适当的医疗管理。