Identification of a 17q25.3 duplication in a Chinese patient with global developmental delay and multiple congenital anomalies

• Published in: Zhonghua yi xue yi chuan xue za zhi Vol. 37; no. 1; p. 52
• Main Authors: Wang, Qingming, Li, Qiaoyi, Xu, Qiuhong, Liu, Yanhui, Yuan, Haiming
• Format: Journal Article
• Language: Chinese
• Published: China 10.01.2020
• Subjects: Abnormalities, Multiple - genetics; Adult; Child, Preschool; China; Chromosome Duplication; Chromosomes, Human, Pair 17 - genetics; Developmental Disabilities - genetics; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Male; Microtubule-Associated Proteins; Translocation, Genetic; China
• ISSN: 1003-9406
• DOI: 10.3760/cma.j.issn.1003-9406.2020.01.014

To delineate the clinical features,inheritance pattern, and genotype-phenotype correlation of a Chinese patient with a 17q25.3 duplication. 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. 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. Above results have enriched the clinical phenotypes of 17q25.3 duplication. Genetic counseling was provided for the family. P4HB, ACTG1, BAI