Subtelomeric Microdeletion in Chromosome 20p13 Associated with Short
Stature
- Jiao Liu
, - Yuwen Li,
- Hans Andersson,
- Jariya Upadia
Hans Andersson
Tulane University Department of Pediatrics
Author ProfileAbstract
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. The23 Feb 2024Submitted to Clinical Case Reports 28 Mar 2024Submission Checks Completed
28 Mar 2024Assigned to Editor
06 Apr 2024Reviewer(s) Assigned
22 Apr 2024Review(s) Completed, Editorial Evaluation Pending
