XXY male with X‐linked dominant chondrodysplasia punctata (Happle syndrome)
- 3 July 1995
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 57 (3), 489-492
- https://doi.org/10.1002/ajmg.1320570326
Abstract
Happle syndrome is an X‐linked dominant disorder with presumed lethality in hemizy‐gous 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 kary‐Otype.This publication has 23 references indexed in Scilit:
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