[Carrier state in X-linked ocular albinism: a proof of the validity of Lyon's hypothesis in man].
The finding of an irregular patchy fundus pigmentation in the mother of a boy with ocular albinism was interpreted as Lyon's effect on the fundus, i.e., the mosaic-like effect caused by a pathologic X-chromosome in the female carrier. It was thus possible to diagnose the more frequent X-linked form in this family.
D000417:Albinism / Q000235:genetics*; D005260:Female; D005654:Fundus Oculi; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D014960:X Chromosome
Konduktorinnenstatus bei X-gebundenem, okulärem Albinismus: Ein Beleg für die Gültigkeit der Lyon-Hypothese beim Menschen.