title: Deletion of chromosome 13 in Moebius syndrome.
abstract: A girl aged 2 1/2 years with Moebius syndrome was found to have a deletion of band q12.2 in chromosome 13 (46,XX,del(13)(q12.2]. This is the second report concerning involvement of chromosome 13q and Moebius syndrome. The observation raises the possibility that a gene responsible for Moebius syndrome is located in this region of chromosome 13.
authors.affiliation: Department of Human Genetics, University of Cape Town Medical School, Observatory, South Africa.
authors.forename: J J
authors.initials: JJ
authors.lastname: Slee
authors.forename: R D
authors.initials: RD
authors.lastname: Smart
authors.forename: D L
authors.initials: DL
authors.lastname: Viljoen
mesh_terms: D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D010243:Paralysis / Q000235:genetics*