Gonadal mosaicism in a family with adrenoleukodystrophy: molecular diagnosis of carrier status among daughters of a gonadal mosaic when direct detection of the mutation is not possible.

Abstract excerpt

Adrenoleukodystrophy is a severe, X-linked neurological disease that has been shown to be linked to DNA markers from Xq28. We tested several families with these markers and, in one family, found two apparent recombination events between DXS52 and the disease. Expansion of the study to include other tests and several others markers from Xq28 led us to conclude that recombination probably had not occurred and that,...

Topics

• Adrenoleukodystrophy
• Alleles
• Brain
• Chorionic Villi
• DNA Probes
• Fatty Acids
• Female
• Genetic Carrier Screening
• Genetic Markers
• Humans
• Male