X-linked ocular albinism |
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Authors: | Charlotte Jaeger Barrie Jay |
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Institution: | (1) Genetic Clinic, Moorfields Eye Hospital, City Road, EC1V 2PD London, England |
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Abstract: | 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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