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Subtelomeric Microdeletion in Chromosome 20p13 Associated with Short Stature
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  • Jiao Liu,
  • Yuwen Li,
  • Hans Andersson,
  • Jariya Upadia
Jiao Liu
Tulane University Department of Pediatrics
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Yuwen Li
Tulane University Department of Pediatrics
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Hans Andersson
Tulane University Department of Pediatrics
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Jariya Upadia
Tulane University Department of Pediatrics

Corresponding Author:[email protected]

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Abstract

Chromosome 20p13 microdeletion occurs rarely, with only 10 reported cases. We report a 16-year-old male with a 1.59 Mb terminal deletion in chromosome 20p13, who presented with proportionate short stature, mild language delay, mild learning disability, and delayed puberty. The clinical phenotype associated with this deletion can exhibit clinical variability. The
23 Feb 2024Submitted to Clinical Case Reports
28 Mar 2024Assigned to Editor
28 Mar 2024Submission Checks Completed
06 Apr 2024Reviewer(s) Assigned