Aldred syndrome

Aldred syndrome is an X-linked recessive genetic disorder. It is mainly characterized by a form of intellectual disability and retinitis pigmentosa. The syndrome was first described by geneticist Micheala Aldred in 1994.^[1]

Aldred syndrome
Other names	Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion
Symptoms	Intellectual disability Retinitis pigmentosa
Usual onset	Congenital
Causes	Deletion on X-chromosome p11.3

Cause

Aldred syndrome is caused by a deletion on the p11.3 area of the X-chromosome.^[2]

References

1. Aldred, M. A.; Dry, K. L.; Knight-Jones, E. B.; Hardwick, L. J.; Teague, P. W.; Lester, D. H.; Brown, J.; Spowart, G.; Carothers, A. D. (November 1994). "Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa". American Journal of Human Genetics. 55 (5): 916–922. ISSN 0002-9297. PMC 1918325. PMID 7977353.
2. "OMIM Entry - # 300578 - CHROMOSOME Xp11.3 DELETION SYNDROME". omim.org. Retrieved 2019-04-28.

External links