Menkes X linked disease: two clonal cell populations in heterozygotes.
- 1 August 1980
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 17 (4) , 262-266
- https://doi.org/10.1136/jmg.17.4.262
Abstract
The 64Cu incorporation into fibroblast clones obtained from 3 obligate and 3 suspected Menkes disease heterozygotes was studied. For each obligate heterozygote, 2 clonal cell populations were observed, 1 with a Menkes phenotype and 1 with a normal phenotype, as predicted by the Lyon hypothesis. The cloning results suggested a heterozygous state in 2 of the suspected carriers. The theoretical and practical limitations of the cloning method for identification of carriers of X-linked diseases are discussed.This publication has 16 references indexed in Scilit:
- Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures.Journal of Medical Genetics, 1980
- Menkes Syndrome: Subcellular Distribution of Copper Determined by an Ultrastructural Histochemical TechniqueUltrastructural Pathology, 1979
- Is Menkes syndrome a copper storage disorder?Clinical Genetics, 1978
- PILI TORTI AS MARKER FOR CARRIERS OF MENKES DISEASEPublished by Elsevier ,1978
- Copper Metabolism in Menkes Disease1Published by S. Karger AG ,1977
- COPPER INCORPORATION STUDIES ON CULTURED CELLS FOR PRENATAL DIAGNOSIS OF MENKES' DISEASEThe Lancet, 1976
- Extra-hepatic storage of copperHuman Genetics, 1975
- Menkes Kinky Hair Syndrome in a Black InfantArchives of Pediatrics & Adolescent Medicine, 1974
- Menkes' Kinky Hair Disease: Further Definition of the Defect in Copper TransportScience, 1973
- DETECTION OF PROXIMAL-VEIN THROMBOSIS BY DOPPLER ULTRASOUND FLOW-DETECTION METHODThe Lancet, 1972