Skip to main content
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1989 May;26(5):337–339. doi: 10.1136/jmg.26.5.337

Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.

C E Wallis 1, P H Beighton 1
PMCID: PMC1015603  PMID: 2732995

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.

Full text

PDF
337

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. 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]
  2. 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]
  3. 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]
  4. 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]
  5. 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]
  6. 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]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES