Clinical expression of Menkes syndrome in females

A M Gerdes; T Tønnesen; N Horn; T Grisar; W Marg; A Müller; R Reinsch; N W Barton; P Guiraud; A Joannard

doi:10.1111/j.1399-0004.1990.tb03612.x

Clinical expression of Menkes syndrome in females

Clin Genet. 1990 Dec;38(6):452-9. doi: 10.1111/j.1399-0004.1990.tb03612.x.

Authors

A M Gerdes¹, T Tønnesen, N Horn, T Grisar, W Marg, A Müller, R Reinsch, N W Barton, P Guiraud, A Joannard, et al.

Affiliation

¹ John F. Kennedy Institute, Glostrup, Denmark.

PMID: 2289318
DOI: 10.1111/j.1399-0004.1990.tb03612.x

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).

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Child, Preschool
Female
Gene Expression Regulation / physiology*
Genetic Carrier Screening
Humans
Infant
Karyotyping
Menkes Kinky Hair Syndrome / diagnosis
Menkes Kinky Hair Syndrome / genetics*
Phenotype*
Prenatal Diagnosis
Sex Chromosome Aberrations / genetics*
X Chromosome*