Related Experiment Videos
Dominant inheritance of Kabuki make-up syndrome
M Tsukahara1, Y Kuroki, K Imaizumi
1School of Allied Health Sciences, Yamaguchi University, Ube, Japan.
American Journal of Medical Genetics
|January 31, 1998
Abstract:
We report on a total of 4 individuals in 2 families with Kabuki make-up syndrome. In family 1, the proposita, a 2 4/12-year-old girl and her mother had typical Kabuki make-up syndrome. The proposita also had early breast development. In family 2, the proposita, a 6-month-old girl and her mother had typical Kabuki make-up syndrome. The proposita died at age 6 months. Analysis of 2 families indicates that the condition is an autosomal dominant inheritance with variable expressivity.