Aldred syndrome
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.[1]
| Aldred syndrome | |
|---|---|
| Other names | Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion |
Cause
Aldred syndrome is caused by a deletion on the p11.3 area of the X-chromosome.[2]
gollark: What if I use my cognitohazard (which is actually generated via specifically seeded simplex noise) which causes perception of arbitrary images as Perlin noise?
gollark: It was only years ago as of last Tuesday.
gollark: I sabotaged it as part of the UNTRANSLATABLE CONGAS initiative.
gollark: Nope. ABR totally doesn't log all messages.
gollark: If you need more, you can always use the coherent particle beam emitter set to photons, and some very fast mirrors.
References
- 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.
- "OMIM Entry - # 300578 - CHROMOSOME Xp11.3 DELETION SYNDROME". omim.org. Retrieved 2019-04-28.
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