title: XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome)
abstract: Happle syndrome is an X-linked dominant disorder with presumed lethality in hemizygous males; familial occurrence is rare. We describe a family with Happle syndrome affecting individuals in 3 generations. A man in this family is the first known male patient with Happle syndrome. He is severely affected; this may be due to his 47,XXY karyotype.
authors.affiliation: Department of Pediatrics, University of South Florida, Tampa 33617-3451, USA.
authors.forename: R
authors.initials: R
authors.lastname: Sutphen
authors.forename: M J
authors.initials: MJ
authors.lastname: Amar
authors.forename: B G
authors.initials: BG
authors.lastname: Kousseff
authors.forename: K E
authors.initials: KE
authors.lastname: Toomey
mesh_terms: D000328:Adult; D002648:Child; D002806:Chondrodysplasia Punctata / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome