title: Currarino triad with a terminal deletion 7q35-->qter.
abstract: We describe a de novo terminal deletion of the long arm of chromosome 7 in a 5 year old girl with the Currarino triad, characterised by congenital anorectal stenosis, a sacral defect, and a presacral mass. Recently, this autosomal dominant trait has been shown to be linked to 7q36, the same region as holoprosencephaly (HPE3). The cytogenetic findings in the present patient with the Currarino triad provided further evidence that a gene(s) for the Currarino triad is located in the 7 q terminal segment.
authors.affiliation: Division of Medical Genetics, Kanagawa Children's Medical Centre, Yokohama, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Masuno
authors.forename: K
authors.initials: K
authors.lastname: Imaizumi
authors.forename: N
authors.initials: N
authors.lastname: Aida
authors.forename: Y
authors.initials: Y
authors.lastname: Tanaka
authors.forename: K
authors.initials: K
authors.lastname: Sekido
authors.forename: Y
authors.initials: Y
authors.lastname: Ohhama
authors.forename: T
authors.initials: T
authors.lastname: Nishi
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroki
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001003:Anal Canal / Q000002:abnormalities; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002897:Chromosomes, Human, Pair 7; D005260:Female; D017353:Gene Deletion; D006801:Humans; D012007:Rectum / Q000002:abnormalities