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J Med Genet. 1991 July; 28(7): 482–484.
PMCID: PMC1016961

Tyrosinase positive albinism with familial 46,XY,t(2;4) (q31.2;q31.22) balanced translocation.


A subject with clinical and biochemical tyrosinase positive oculocutaneous albinism (OCA) also had a balanced translocation, 46,XY,t(2;4)(q31.2;q31.22). This observation provides evidence for a possible gene locus in the q31 region of chromosome 2 or 4.

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Selected References

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  • King RA, Witkop CJ. Detection of heterozygotes for tyrosinase-negative oculocutaneous albinism by hairbulb tyrosinase assay. Am J Hum Genet. 1977 Mar;29(2):164–168. [PubMed]
  • Spritz RA, Strunk KM, Giebel LB, King RA. Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. N Engl J Med. 1990 Jun 14;322(24):1724–1728. [PubMed]
  • O'Donnell FE, Jr, King RA, Green WR, Witkop CJ., Jr Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males. Arch Ophthalmol. 1978 Sep;96(9):1621–1625. [PubMed]
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  • Searle AG. Comparative genetics of albinism. Ophthalmic Paediatr Genet. 1990 Sep;11(3):159–164. [PubMed]

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