Clinical and genetic analysis of ten Chinese pedigrees affected with 7q11.23 duplication syndrome
10.3760/cma.j.cn511374-20221118-00799
- VernacularTitle:7q11.23重复综合征10个家系的临床与遗传学分析
- Author:
Panlai SHI
1
;
Yongchao LIU
;
Yaqin HOU
;
Duo CHEN
;
Xiangdong KONG
Author Information
1. 郑州大学第一附属医院遗传与产前诊断中心，郑州 450052
- Keywords:
7q11.23 duplication syndrome;
Pedigree;
Phenotypic heterogeneity;
Mental retardation
- From:
Chinese Journal of Medical Genetics
2024;41(2):140-144
- CountryChina
- Language:Chinese
-
Abstract:
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.
