Article
A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.
American journal of medical genetics. Part A - 1 Sept 2016
Fontana Paolo, Tortora Cristina, Petillo Roberta, Falco Mariateresa, Miniero Martina, De Brasi Davide, Pisanti Maria Antonietta
Abstract excerpt
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). © 2016 Wiley Periodicals, Inc.
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