Abstract
A Chinese girl with oculocutaneous albinism has the Prader-Willi syndrome and a normal karyotype. This association emphasises the importance of further molecular study of the 15(q12) region of the genome in the search for the locus of an albinism gene.
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- Butler M. G., Meaney F. J., Palmer C. G. Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am J Med Genet. 1986 Mar;23(3):793–809. doi: 10.1002/ajmg.1320230307. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Creel D. J., Bendel C. M., Wiesner G. L., Wirtschafter J. D., Arthur D. C., King R. A. Abnormalities of the central visual pathways in Prader-Willi syndrome associated with hypopigmentation. N Engl J Med. 1986 Jun 19;314(25):1606–1609. doi: 10.1056/NEJM198606193142503. [DOI] [PubMed] [Google Scholar]
- Frenk E., Calame A. Hypopigmentation oculo-cutanée familiale à transmission dominante due à un trouble de la formation des mélanosomes. Schweiz Med Wochenschr. 1977 Dec 31;107(52):1964–1968. [PubMed] [Google Scholar]
- Hittner H. M., King R. A., Riccardi V. M., Ledbetter D. H., Borda R. P., Ferrell R. E., Kretzer F. L. Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome. Am J Ophthalmol. 1982 Sep;94(3):328–337. doi: 10.1016/0002-9394(82)90358-0. [DOI] [PubMed] [Google Scholar]
- Wenger S. L., Hanchett J. M., Steele M. W., Maier B. V., Golden W. L. Clinical comparison of 59 Prader-Willi patients with and without the 15(q12) deletion. Am J Med Genet. 1987 Dec;28(4):881–887. doi: 10.1002/ajmg.1320280413. [DOI] [PubMed] [Google Scholar]
- Wiesner G. L., Bendel C. M., Olds D. P., White J. G., Arthur D. C., Ball D. W., King R. A. Hypopigmentation in the Prader-Willi syndrome. Am J Hum Genet. 1987 May;40(5):431–442. [PMC free article] [PubMed] [Google Scholar]


