Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literature

ConclusionThis report highlights the potential of aCGH as a practical and powerful tool with which to detect submicroscopic chromosomal abnormalities in individuals presenting with a wide spectrum of phenotypes, ranging from facial dysmorphism to failure to thrive. Additionally, the literature review casts new light on the clinical features of 20p13 microdeletion.

Source: Molecular Genetics & Genomic Medicine - May 12, 2019 Category: Genetics & Stem Cells Authors: Hung ‐Hsiang Fang, Shih‐Yao Liu, Ying‐Fu Wang, Che‐Ming Chiang, Chiung‐Chen Liu, Chien‐Ming Lin Tags: CLINICAL REPORT Source Type: research