Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1995 Jul 3;57(3):489-92.
doi: 10.1002/ajmg.1320570326.

XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome)

R Sutphen  1 , M J Amar, B G Kousseff, K E Toomey
Affiliations
Case Reports

XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome)

R Sutphen et al. Am J Med Genet. .

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.

PubMed Disclaimer

Comment in

Publication types

LinkOut - more resources