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) |
|---|---|
| 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 |
Fingerprint
Keywords
- 17p11.2
- Congenital diaphragmatic hernia
- Contiguous gene deletion
- RAI1 gene
- Smith-magenis
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Congenital diaphragmatic hernia in Smith-Magenis syndrome : A possible locus at chromosome 17p11.2. / Sanford, E. F.; Bermudez-Wagner, K.; Jeng, L. J B; Rauen, Katherine A; Slavotinek, Anne M.
In: American Journal of Medical Genetics, Part A, Vol. 155, No. 11, 11.2011, p. 2816-2820.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Congenital diaphragmatic hernia in Smith-Magenis syndrome
T2 - A possible locus at chromosome 17p11.2
AU - Sanford, E. F.
AU - Bermudez-Wagner, K.
AU - Jeng, L. J B
AU - Rauen, Katherine A
AU - Slavotinek, Anne M.
PY - 2011/11
Y1 - 2011/11
N2 - 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.
AB - 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.
KW - 17p11.2
KW - Congenital diaphragmatic hernia
KW - Contiguous gene deletion
KW - RAI1 gene
KW - Smith-magenis
UR - http://www.scopus.com/inward/record.url?scp=80054916311&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=80054916311&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.34247
DO - 10.1002/ajmg.a.34247
M3 - Article
C2 - 21965155
AN - SCOPUS:80054916311
VL - 155
SP - 2816
EP - 2820
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
SN - 1552-4825
IS - 11
ER -