title: Blepharophimosis sequence and de novo balanced autosomal translocation [46,XY,t(3;4)(q23;p15.2)]: possible assignment of the trait to 3q23.
abstract: We report on a boy with the blepharophimosis sequence and de novo, apparently balanced reciprocal translocation between 3q23 and 4p15.2 [46,XY,t(3;4)(q23;p15.2)de novo]. Possible assignment of this autosomal dominant disorder is discussed. A 3q23 band is a more preferable gene locus of the belpharophimosis sequence, based on the comparison of clinical manifestations between 4p- and 3q-syndromes.
authors.affiliation: Division of Medical Genetics, Saitama Children's Medical Center, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Fukushima
authors.forename: K
authors.initials: K
authors.lastname: Wakui
authors.forename: T
authors.initials: T
authors.lastname: Nishida
authors.forename: Y
authors.initials: Y
authors.lastname: Ueoka
mesh_terms: D016569:Blepharophimosis / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic / Q000235:genetics*