Tyrosinase positive albinism with familial 46,XY,t(2;4) (q31.2;q31.22) balanced translocation.
case_report · Level V
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- Record sourced from PubMed, PMID 1910093.
- Also identified by PMC identifier 1016961.
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Abstract
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.
Medical subject headings
- Albinism, Oculocutaneous
- Chromosome Aberrations
- Chromosomes, Human, Pair 2
- Chromosomes, Human, Pair 4
- Translocation, Genetic