Identification of a 17q25.3 duplication in a Chinese patient with global developmental delay and multiple congenital anomalies
10.3760/cma.j.issn.1003-9406.2020.01.014
- VernacularTitle: 单纯17q25.3拷贝数重复导致全面性发育迟缓和多发性先天异常一例
- Author:
Qingming WANG
1
;
Qiaoyi LI
;
Qiuhong XU
;
Yanhui LIU
;
Haiming YUAN
Author Information
1. Dongguan Maternal and Child Health Care Hospital, Dongguan Institute of Reproductive and Genetic Research, Dongguan, Guangdong 523120, China
- Publication Type:Clinical Trail
- Keywords:
17q25.3 duplication;
Global developmental delay;
Skeletal system abnormality;
Genetic counseling
- From:
Chinese Journal of Medical Genetics
2020;37(1):52-56
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To delineate the clinical features, inheritance pattern, and genotype-phenotype correlation of a Chinese patient with a 17q25.3 duplication.
Methods:Whole exome sequencing(WES), chromosomal microarray analysis (CMA), chromosomal karyotyping and fluorescence in situ hybridization(FISH) were employed for the analysis of the proband and his family members.
Results:A 5.7 Mb duplication at 17q25.3→qter was identified by WES and CMA in the 4-year-old boy with multiple congenital anomalies, which was classified as a clinically pathogenic variant. This duplication was confirmed by FISH, and was inherited from his unaffected mother who carried a balanced translocation. Further study revealed that his grandmother also carried the balanced translocation but had gestated three healthy children and had no abortion history. His uncle also carried the balanced translocation, while his aunt was normal.
Conclusion:Above results have enriched the clinical phenotypes of 17q25.3 duplication. Genetic counseling was provided for the family.P4HB, ACTG1, BAIAP2 and TBCD genes may underlie the clinical features for the 17q25.3 duplication.
