XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome)
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.
Sutphen
R
R
Department of Pediatrics, University of South Florida, Tampa 33617-3451, USA.
Amar
M J
MJ
Kousseff
B G
BG
Toomey
K E
KE
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