title: Apparent Opitz BBBG syndrome with a partial duplication of 5p.
abstract: We describe a patient with a paracentric inversion and partial duplication of chromosome 5p. In addition this patient presented with a malformation pattern consistent with Opitz BBBG syndrome. This implies that the gene responsible for this single gene defect may be located within this duplicated region.
authors.affiliation: Department of Pediatrics, Eastern Virginia Medical School, Norfolk 23501.
authors.forename: L G
authors.initials: LG
authors.lastname: Leichtman
authors.forename: A
authors.initials: A
authors.lastname: Werner
authors.forename: W T
authors.initials: WT
authors.lastname: Bass
authors.forename: D
authors.initials: D
authors.lastname: Smith
authors.forename: A R
authors.initials: AR
authors.lastname: Brothman
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D007446:Chromosome Inversion; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007231:Infant, Newborn; D007830:Larynx / Q000002:abnormalities; D008297:Male; D013577:Syndrome; D014314:Trisomy