Clinical and genetic analysis of a phenotypically normal three-generation family carrying 10.884 Mb deletions at 13q21.1q21.32

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.