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<p>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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年1月26日

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  • Chisato Narita,
  • Hidekazu Utsunomiya,
  • Junpei Hamada,
  • Ikuko Kageyama,
  • Maki Fukami,
  • Akie Nakamura

摘要

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.