A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features | Zendy

Fontana Paolo | Zendy; Tortora Cristina | Zendy; Petillo Roberta | Zendy; Falco Mariateresa | Zendy; Miniero Martina | Zendy; De Brasi Davide | Zendy; Pisanti Maria Antonietta | Zendy

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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.

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