title: Interstitial deletion of the short arm of chromosome 4. A phenotype distinct from the Wolf-Hirschhorn syndrome.
abstract: In this paper we report a 3-month-old male newborn with marked hypotonia and an interstitial deletion of the short arm of chromosome 4 but with preservation of the 4p16 band (karyotype 46,XY,del(4)(pter----p15.3::p14----cen----qter). In contrast to patients with a pure 4p16 deletion this patient presented dysmorphic stigmata which were much more discrete than those found in the typical Wolf-Hirschhorn syndrome.
authors.affiliation: Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.lastname: Yang-Aisheng
authors.forename: A
authors.initials: A
authors.lastname: Kleczkowska
authors.forename: F
authors.initials: F
authors.lastname: Lemmens
authors.forename: W
authors.initials: W
authors.lastname: Vandecasseye
authors.forename: H
authors.initials: H
authors.lastname: van den Berghe
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D006801:Humans; D008297:Male; D010641:Phenotype; D013577:Syndrome