Clinical and genetic analysis of a phenotypically normal three-generation family carrying 10.884 Mb deletions at 13q21.1q21.32
Year: 2026
Type: article
Study design: Case Report
Abstract: OBJECTIVE: Patients with variations exhibiting abnormal phenotypes or no significant clinical signs offer crucial insights into our genome's complexities. To help determine the pathogenicity of 13q21.1q21.32 deletion, we reported four patients in a family carrying this variation. CASE REPORT: Our study identified a family of four patients harboring a deletion of approximately 10.884 Mb spanning 13q21.1 to q21.32, despite exhibiting no apparent phenotypic manifestations. CONCLUSION: This finding, alongside evidences from existing research, suggests that the deletion of 13q21.1q21.32 is a likely benign copy number variation (CNV). The findings can be used as a reference for genetic counseling in cases of similar abnormalities encountered during future prenatal diagnosis.
Authors: Xiao-lin Wang, Lin-yuan Niu, Yu-jiao Wang, Chun-xiao Zhang, Yu-juan Wang, Qian Cui, Xin-qiang Lan
Institutions: Qingdao University, Weihai Maternal and Child Health Hospital
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7166125273