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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