Summary
A pedigree of X-linked ocular albinism is presented containing nine affected males and 10 heterozygous females. One carrier female showed ocular changes similar to those of affected males. She is considered to be a manifesting heterozygote, a situation explained by the Lyon hypothesis. One affected male married a female with autosomal recessive ocular albinism and produced one daugher with the fundus changes of the carrier state of X-linked ocular albinism, and one son with normal eyes. The daughter did not show any evidence of the additive effect of the two different genes for X-linked and autosomal recessive ocular albinism.
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Jaeger, C., Jay, B. X-linked ocular albinism. Hum Genet 56, 299–304 (1981). https://doi.org/10.1007/BF00274683
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DOI: https://doi.org/10.1007/BF00274683