期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 152A, 期 12, 页码 3115-3119出版社
WILEY
DOI: 10.1002/ajmg.a.33476
关键词
mental retardation; language delay; primary amenorrhea; 7q deletion; CNTNAP2; NOBOX
资金
- Danish National Research Foundation
- Lundbeck Foundation [R67-2010-6206] Funding Source: researchfish
We describe a chromosome rearrangement, ins(7; 13)(q32q34; q32), which segregates in a three generation family, giving rise to three individuals with an unbalanced rearrangement. Two of the individuals, a sister and a brother, were investigated further in this study. They had minor facial dysmorphism and neuropsychiatric disorders including mental retardation, language delay and epilepsy. The sister had primary amenorrhea. Array CGH revealed a 12.2Mb deletion at 7q34-q36.2 including more than 60 genes where CNTNAP2 and NOBOX are of special interest. Comparison of the clinical and cytogenetic findings of our patients with previously reported patients, supports that haploinsuffiency of CNTNAP2 can result in language delay and/or autism spectrum disorder. Furthermore, we report on the second women with a deletion involving NOBOX who is affected by primary amenorrhea. (C) 2010 Wiley-Liss, Inc.
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