title: Chromosome abnormality in Kallmann syndrome.
abstract: We report on an individual with Kallman syndrome (KS) and a balanced de novo translocation (7;12)(q22,q24). None of 6 full sibs, 3 half-sibs, or parents have KS or this chromosome translocation. This is the only known report of KS with a chromosome abnormality. This may represent a spurious association or genetic heterogeneity vis-a-vis the reported linkage of KS to the steroid sulphatase gene on the X chromosome. The pathophysiology and genetics of KS are discussed.
authors.affiliation: University of North Dakota Medical School, Belcourt.
authors.forename: L G
authors.initials: LG
authors.lastname: Best
authors.forename: W A
authors.initials: WA
authors.lastname: Wasdahl
authors.forename: L M
authors.initials: LM
authors.lastname: Larson
authors.forename: J
authors.initials: J
authors.lastname: Sturlaugson
mesh_terms: D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D002478:Cells, Cultured; D002881:Chromosomes, Human, Pair 12; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D000857:Olfaction Disorders / Q000235:genetics*; D009832:Olfactory Nerve / Q000002:abnormalities; D013577:Syndrome; D014178:Translocation, Genetic