Article
Clinical expression of Menkes syndrome in females.
Clinical genetics - 1 Dec 1990
Gerdes A M, Tønnesen T, Horn N, Grisar T, Marg W, Müller A, Reinsch R, Barton N W, Guiraud P, Joannard A
Abstract excerpt
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).
Topics
- Child, Preschool
- Female
- Gene Expression Regulation
- Genetic Carrier Screening
- Humans
- Infant
- Karyotyping
- Menkes Kinky Hair Syndrome
- Phenotype
- Prenatal Diagnosis
- Sex Chromosome Aberrations
- X Chromosome