期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 155A, 期 11, 页码 2816-2820出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.34247
关键词
smith-magenis; congenital diaphragmatic hernia; 17p11.2; RAI1 gene; contiguous gene deletion
资金
- Eunice Kennedy Shriver National Institute of Child Health and Development at the National Institutes of Health [K08, K08HD053476]
- NIH/NCRR UCSF-CTSI [UL1 RR024131]
We report on a 7-month-old girl with Smith-Magenis syndrome (SMS) due to a 4.76-Mb deletion of 17p12-17p11.2 detected by array comparative genomic hybridization. She was also affected with a left-sided congenital diaphragmatic hernia (CDH) and cardiac anomalies including an atypical atrioventricular canal defect and a cleft mitral valve. To our knowledge, this is the first reported case of a patient with both SMS and CDH. There are numerous chromosomal regions in which duplications, deletions, inversions, or translocations have been associated with CDH, but none have previously been reported at or close to 17p11.2. We discuss candidate genes for the diaphragmatic defect in this patient. Our case demonstrates that it is important to consider the possibility of SMS in non-isolated cases of diaphragmatic hernia. (C) 2011 Wiley Periodicals, Inc.
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