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

作者：Chung Brian H Y; Stavropoulos James; Marshall Christian R; Wek**erg Rosanna; Scherer Stephen W; Yoon Grace^*

来源：American Journal of Medical Genetics, Part A, 2011, 155A(2): 424-429.

DOI：10.1002/ajmg.a.33821

• microdeletion 2q23.1
• MBD5
• developmental delay
• intellectual disability

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.

• 出版日期2011-2