A Novel 5q11.2 Microdeletion in a Child with Mild Developmental Delay and Dysmorphic Features

摘要

5q11.2 Deletion is a very rare genomic disorder, and its clinical phenotype has not yet been characterized. This report describes a patient with an 8.6 Mb deletion, showing hypotonia, mild developmental delay, short stature, and distinctive dysmorphic features (frontal bossing, square face, deep-set eyes, prominent columella, long philtrum, thin lips). (C) 2016 Wiley Periodicals, Inc.