Aldred syndrome: Difference between revisions
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Revision as of 05:49, 10 February 2025
Aldred syndrome is an X-linked recessive genetic disorder. It is mainly characterized by a form of mental retardation and retinitis pigmentosa. The syndrome was first described by geneticist Micheala Aldred in 1994.<ref>Aldred, M. A.,
Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa, American Journal of Human Genetics, Vol. 55(Issue: 5), pp. 916–922, PMID: 7977353, PMC: 1918325,</ref>
Cause
Aldred syndrome is caused by a deletion on the p11.3 area of the X-chromosome.<ref>
OMIM Entry - # 300578 - CHROMOSOME Xp11.3 DELETION SYNDROME(link). omim.org.
Accessed 2019-04-28.
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References
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