Abstract
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.
Original language | English (US) |
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Pages (from-to) | 2816-2820 |
Number of pages | 5 |
Journal | American Journal of Medical Genetics, Part A |
Volume | 155 |
Issue number | 11 |
DOIs | |
State | Published - Nov 2011 |
Externally published | Yes |
Keywords
- 17p11.2
- Congenital diaphragmatic hernia
- Contiguous gene deletion
- RAI1 gene
- Smith-magenis
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics