2q23 De Novo Microdeletion Involving the MBD5 Gene in a Patient With Developmental Delay, Postnatal Microcephaly and Distinct Facial Features

被引：25

作者：

Chung, Brian H. Y. ^{[1
]}

Stavropoulos, James ^{[2
,3
]}

Marshall, Christian R. ^{[4
]}

Weksberg, Rosanna ^{[1
,5
]}

Scherer, Stephen W. ^{[4
,5
]}

Yoon, Grace ^{[1
]}

机构：

[1] Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Toronto, ON M5G 1H4, Canada

[2] Hosp Sick Children, Dept Pediat Lab Med, Cytogenet Lab, Toronto, ON M5G 1H4, Canada

[3] Univ Toronto, Dept Lab Med & Pathol, Toronto, ON, Canada

[4] Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1H4, Canada

[5] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 02期

关键词：

microdeletion; 2q23.1; MBD5; developmental delay; intellectual disability; MORPHOLOGY STANDARD TERMINOLOGY; COMPARATIVE GENOMIC HYBRIDIZATION; COPY-NUMBER VARIATIONS; MENTAL-RETARDATION; CONGENITAL-ANOMALIES; ELEMENTS; INDIVIDUALS; MICROARRAY; PHENOTYPE; IMBALANCE;

D O I：

10.1002/ajmg.a.33821

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2011 Wiley-Liss, Inc.

引用

页码：424 / 429

页数：6

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