Tyrosinase positive albinism with familial 46,XY,t(2;4) (q31.2;q31.22) balanced translocation.
- 1 July 1991
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 28 (7) , 482-484
- https://doi.org/10.1136/jmg.28.7.482
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.Keywords
This publication has 8 references indexed in Scilit:
- Detection of Mutations in the Tyrosinase Gene in a Patient with Type IA Oculocutaneous AlbinismNew England Journal of Medicine, 1990
- Comparative genetics of albinismOphthalmic Paediatrics and Genetics, 1990
- Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.Journal of Medical Genetics, 1989
- AlbinismClinics in Dermatology, 1989
- The tyrosinase-positive oculocutaneous albinism locus is not linked to the ?-globin locus in manHuman Genetics, 1988
- Autosomal Recessively Inherited Ocular AlbinismArchives of Ophthalmology (1950), 1978
- DETECTION OF HETEROZYGOTES FOR TYROSINASE-NEGATIVE OCULOCUTANEOUS ALBINISM BY HAIRBULB TYROSINASE ASSAY1977