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.
Walpole
I R
IR
Department of Paediatrics, University of Western Australia, Princess Margaret Hospital for Children, Perth.
Mulcahy
M T
MT
D016115:Albinism, Oculocutaneous / Q000145:classification / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000648:ultrastructure*; D002894:Chromosomes, Human, Pair 4 / Q000648:ultrastructure*; D006801:Humans; D008297:Male; D014442:Monophenol Monooxygenase / Q000032:analysis; D014178:Translocation, Genetic
D014442:Monophenol Monooxygenase