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Tyrosinase positive albinism with familial 46,XY,t(2;4) (q31.2;q31.22) balanced translocation.
  1. I R Walpole,
  2. M T Mulcahy
  1. Department of Paediatrics, University of Western Australia, Princess Margaret Hospital for Children, Perth.


    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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