Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome
Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome
复制标题
12例产前惊呼综合征的临床和分子特征
DOI：
10.1002/mgg3.1312
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发表时间：
2020-06-04
影响因子：
2
通讯作者：
Wang, Hua
中科院分区：
文献类型：
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作者：
Peng, Ying;Pang, Jialun;Wang, Hua
背景：本研究旨在明确12例Cri-Du-Chat综合征(CDCS)产前病例的分子基础及其潜在的基因分型-表型关联。方法对Cri-Du-Chat综合征患者进行染色体核型分析和单核苷酸多态基因芯片分析。结果9例患者存在5p末端缺失，3例存在5p间质缺失，这些病例的缺失大小不一且部分重叠。表型上，除了胎儿宫内生长受限(IUGR)和脑及心脏异常外，还可观察到尿道下裂和肺发育不良。结论本研究明确了CDC患者的分子基础，为CDC家系的遗传咨询提供了重要依据。本研究结果拓展了胎儿期CDC的临床特征，为进一步完善该综合征的基因-表型相关性提供了重要信息。
Background This study aimed to define the molecular basis for 12 prenatal cases of Cri-du-chat syndrome (CdCS) and the potential genotyping-phenotyping association.Methods Karyotyping and single nucleotide polymorphism array analyses for copy number variants were performed.Results Nine cases had 5p terminal deletions and three had 5p interstitial deletions, and these cases had variable deletion sizes with partial overlapping. Phenotypically, besides intrauterine growth restriction (IUGR) and brain as well as heart abnormalities, hypospadias, and lung dysplasia were observed. Potential genetic causes for specific phenotypes in these cases were identified.Conclusion This study defined the molecular bases for the patients of CdCS, which is important for genetic counseling for these families. The findings of present study expand the clinical features of CdCS in the fetal period, and provided important information for further refining the genotypic-phenotypic correlations for this syndrome.