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A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features
Author(s) -
Fontana Paolo,
Tortora Cristina,
Petillo Roberta,
Falco Mariateresa,
Miniero Martina,
De Brasi Davide,
Pisanti Maria Antonietta
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37824
Subject(s) - frontal bossing , hypotonia , global developmental delay , body dysmorphic disorder , short stature , psychology , genetics , phenotype , pediatrics , biology , medicine , anatomy , psychiatry , gene
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.