title: Möbius-like syndrome associated with a 1;2 chromosome translocation.
abstract: We report here a rare case of Möbius-like syndrome associated with a 1;2 chromosome reciprocal translocation (46,XY,t(1;2)(p22.3;q21.1). The patient had facial diplegia, ptosis, anteverted nostrils, malformed and lowset ears, and slight developmental delay. Since a microdeletion could be present at the breakpoint in a reciprocal translocation, it is possible that the gene responsible for Möbius syndrome is located in this region of chromosome 1.
authors.affiliation: Department of Pediatrics, Yamaguchi University School of Medicine, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Nishikawa
authors.forename: T
authors.initials: T
authors.lastname: Ichiyama
authors.forename: T
authors.initials: T
authors.lastname: Hayashi
authors.forename: S
authors.initials: S
authors.lastname: Furukawa
mesh_terms: D002878:Chromosomes, Human, Pair 1; D002889:Chromosomes, Human, Pair 2; D002658:Developmental Disabilities / Q000235:genetics; D004423:Ear / Q000002:abnormalities; D005158:Facial Paralysis / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009666:Nose / Q000002:abnormalities; D011247:Pregnancy; D013577:Syndrome; D014178:Translocation, Genetic