Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2
Article first published online: 23 APR 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 6, pages 1421–1424, June 2013
How to Cite
2013. Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2. Am J Med Genet Part A 161A:1421–1424., , , , , .
- Issue published online: 22 MAY 2013
- Article first published online: 23 APR 2013
- Manuscript Accepted: 11 JAN 2013
- Manuscript Received: 14 OCT 2012
- nasal skin tag;
- anorectal malformation;
- cat eye syndrome;
- chromosome 3q26.3;
A full term female newborn presented with prominent forehead, bilateral microphthalmia, iris coloboma and cataract, wide intercanthal distance, large, low-set and protruding ears, skin tag at the left nasal nostril, imperforate anus with rectovestibular fistula, and postnatal growth delay with brachymicrocephaly. A marker chromosome was not detectable and the copy number of 22q11 was normal. However, array CGH revealed a 3.5 Mb microdeletion of chromosome region 3q26.32–3q26.33 (chr. 3: 178,598,162–182,114,483; hg19) which comprised the SOX2 gene. While SOX2 haploinsufficiency is known to cause microphthalmia and coloboma, it has not been described before in patients with anal atresia. © 2013 Wiley Periodicals, Inc.