Submicroscopic 16q24.2-q24.3 deletion in a family with nonsyndromic short stature.

ABSTRACT: Array-based comparative genomic hybridization for a boy, his mother and his half-sister with etiology-unknown nonsyndromic short stature identified a hitherto unreported heterozygous ~1.5-Mb deletion at 16q24.2-q24.3. Whole-exome sequencing detected no pathogenic variants. Our results, in conjunction with previous reports of cases with similar deletions, indicate that the 16q24.2-q24.3 region provides a platform for submicroscopic deletions and possibly contains a gene(s) or regulatory elements involved in skeletal growth.

SUBMITTER: Narita C 

PROVIDER: S-EPMC12855966 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature