7q11.23重复综合征10个家系的临床与遗传学分析

Clinical and genetic analysis of ten Chinese pedigrees affected with 7q11.23 duplication syndrome

目的分析10个7q11.23重复综合征家系的临床与遗传学特点。方法以2017年12月至2022年1月就诊于郑州大学第一附属医院遗传与产前诊断中心的10个7q11.23重复综合征家系作为研究对象,对病例进行低深度全基因组测序或单核苷酸多态性芯片检测,分析其临床表型和遗传方式。结果10个家系中包括6个产前病例与4个青少年病例。在6个产前病例中,有4例超声显示异常,包括3例软指标异常与1例胎儿结构发育异常。4个青少年病例的临床表型包括智力低下、语言发育落后以及注意缺陷多动障碍等。12个病例的7q11.23重复范围为1.31~1.42 Mb,涉及7q11.23重复综合征的经典区域;其中5例进行了家系验证,3例为新发变异,2例遗传自亲代。结论7q11.23重复综合征临床表型可能有明显异质性,应重视孕前咨询和医学指导。

Objective To analyze the clinical and genetic characteristics of ten Chinese pedigrees affected with 7q11.23 duplication syndrome.Methods From December 2017 to January 2022,ten pedigrees diagnosed with 7q11.23 duplication syndrome at the First Affiliated Hospital of Zhengzhou University were enrolled as the study subjects.Clinical data of all subjects were collected,and some had subjected to copy number variation sequencing or single nucleotide polymorphism array to analyze the pattern of inheritance.Results The probands had included six fetuses and four adolescents.Four of the six prenatal cases showed abnormal ultrasound indicators,including three with soft indicators and one with abnomal feta structural development.The clinical phenotype of the four adolescent cases had included mental retardation,delayed language development,and attention deficit hyperactivity disorder.The size of the copy number variations had ranged from 1.31 to 1.42 Mb,involving the classic region of 7q11.23 duplication syndrome.Of these,five cases had undergone parental origin testing,three cases were de novo,and two were hereditary.Conclusion Individuals with 7q11.23 duplication syndrome may show substantial clinical phenotypic heterogeneity,hence the affected families should be provided with pre-pregnancy consultation and reproductive guidance.