Subtelomeric Microdeletion in Chromosome 20p13 Associated with Short Stature
crossref(2024)
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
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