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Salem, N.J.M.* ; Hempel, M.* ; Heiliger, K.J.* ; Hosie, S.* ; Meitinger, T. ; Oexle, K.*

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)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter 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
Zeitschrift American Journal of Medical Genetics, Part A
Quellenangaben Band: 161, Heft: 6, Seiten: 1421-1424 Artikelnummer: , Supplement: ,
Verlag Wiley
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)