How to Cite this Article: Sanford EF, Bermudez-Wagner K, Jeng LJB, Rauen KA, Slavotinek AM. 2011. Congenital diaphragmatic hernia in Smith–Magenis syndrome: A possible locus at chromosome 17p11.2. Am J Med Genet Part A 155: 2816–2820.
Congenital diaphragmatic hernia in Smith–Magenis syndrome: A possible locus at chromosome 17p11.2†
Article first published online: 30 SEP 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 11, pages 2816–2820, November 2011
How to Cite
Sanford, E.F., Bermudez-Wagner, K., Jeng, L.J.B., Rauen, K.A. and Slavotinek, A. M. (2011), Congenital diaphragmatic hernia in Smith–Magenis syndrome: A possible locus at chromosome 17p11.2. Am. J. Med. Genet., 155: 2816–2820. doi: 10.1002/ajmg.a.34247
- Issue published online: 20 OCT 2011
- Article first published online: 30 SEP 2011
- Manuscript Accepted: 17 JUL 2011
- Manuscript Received: 16 MAR 2011
- The Eunice Kennedy Shriver National Institute of Child Health and Development at the National Institutes of Health. Grant Number: K08HD053476
- NIH/NCRR UCSF-CTSI. Grant Number: UL1 RR024131
- congenital diaphragmatic hernia;
- RAI1 gene;
- contiguous gene deletion
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. © 2011 Wiley Periodicals, Inc.