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2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features
Author(s) -
Chung Brian H.Y.,
Stavropoulos James,
Marshall Christian R.,
Weksberg Rosanna,
Scherer Stephen W.,
Yoon Grace
Publication year - 2011
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.33821
Subject(s) - microcephaly , short stature , global developmental delay , chromosome , genetics , psychology , pediatrics , medicine , biology , gene , phenotype
We report on a female patient with a de novo interstitial deletion of chromosome region 2q23.1–23.3 identified by array‐CGH. She had significant global delay with developmental regression at age 6 years. She developed seizures at age 3 years with progressive difficulties with balance, loss of fine motor skills and aggressive behavior. She had short stature, microcephaly, and distinct facial features. Her speech was dysarthric, and she demonstrated repetitive hand movements. In this article, we compare the clinical features of our patient with previously reported cases with a 2q23.1 deletion. © 2011 Wiley‐Liss, Inc.