title: Sex chromosome aneuploidy and Bardet-Biedl syndrome.
abstract: The inheritance of Bardet-Biedl syndrome is thought to be autosomal recessive. Of the approximately 500 case reports in the literature, three patients were found to have sex chromosome aneuploidy. The authors describe two siblings with Bardet-Biedl syndrome, one of whom has a unique sex chromosome aneuploidy with mosaicism, including deletion of the short arm of the X chromosome (45,X/46,X,del(X)(p21)). The possible significance of sex chromosome aneuploidy and the Bardet-Biedl syndrome is discussed.
authors.affiliation: Division of Ophthalmology, Case Western Reserve University, Cleveland, OH.
authors.forename: H E
authors.initials: HE
authors.lastname: Grossniklaus
authors.forename: A
authors.initials: A
authors.lastname: Muir
authors.forename: W E
authors.initials: WE
authors.lastname: Bruner
authors.forename: W
authors.initials: W
authors.lastname: Annable
authors.forename: L L
authors.initials: LL
authors.lastname: Dickerman
authors.forename: W E
authors.initials: WE
authors.lastname: Johnson
mesh_terms: D000328:Adult; D000782:Aneuploidy; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007849:Laurence-Moon Syndrome / Q000235:genetics* / Q000473:pathology; D008297:Male; D012729:Sex Chromosome Aberrations / Q000473:pathology*