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Open Access Green as soon as Postprint is submitted to ZB.
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. A 161, 1421-1424 (2013)
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 3.5Mb 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.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Coloboma ; Micophthalmia ; Nasal Skin Tag ; Anorectal Malformation ; Cat Eye Syndrome ; Chromosome 3q26.3 ; Microdeletion ; Sox2 ; Prkca; Anophthalmia ; Defects ; Mutation ; Genes ; Pax6
ISSN (print) / ISBN
1552-4825
e-ISSN
1552-4833
Quellenangaben
Volume: 161,
Issue: 6,
Pages: 1421-1424
Publisher
Wiley
Reviewing status
Peer reviewed
Institute(s)
Institute of Human Genetics (IHG)