Related Experiment Videos
Clinical expression of Menkes syndrome in females
A M Gerdes1, T Tønnesen, N Horn
1John F. Kennedy Institute, Glostrup, Denmark.
Clinical Genetics
|December 1, 1990
Abstract:
Three female patients with Menkes syndrome are described. Clinically, they have typical Menkes syndrome. Biochemically, they have significantly increased 64Cu-uptake in cultured fibroblasts. The chromosomal analysis was normal for two of the patients and abnormal for one patient (45X/46XX mosaicism).