Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1991 Nov;28(11):729–733. doi: 10.1136/jmg.28.11.729

A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.

R J Gibbons 1, A O Wilkie 1, D J Weatherall 1, D R Higgs 1
PMCID: PMC1017105  PMID: 1770527

Full text

PDF
731

Images in this article

731Image
on p.731

Selected References

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

  1. Bloch M., Hayden M. R. Opinion: predictive testing for Huntington disease in childhood: challenges and implications. Am J Hum Genet. 1990 Jan;46(1):1–4. [PMC free article] [PubMed] [Google Scholar]
  2. Cole T. R., May A., Hughes H. E. Alpha thalassaemia/mental retardation syndrome (non-deletional type): report of a family supporting X linked inheritance. J Med Genet. 1991 Nov;28(11):734–737. doi: 10.1136/jmg.28.11.734. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Donnai D., Clayton-Smith J., Gibbons R. J., Higgs D. R. The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage. J Med Genet. 1991 Nov;28(11):742–745. doi: 10.1136/jmg.28.11.742. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Harvey M. P., Kearney A., Smith A., Trent R. J. Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male. J Med Genet. 1990 Sep;27(9):577–581. doi: 10.1136/jmg.27.9.577. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Higgs D. R., Vickers M. A., Wilkie A. O., Pretorius I. M., Jarman A. P., Weatherall D. J. A review of the molecular genetics of the human alpha-globin gene cluster. Blood. 1989 Apr;73(5):1081–1104. [PubMed] [Google Scholar]
  6. Orkin S. H. Globin gene regulation and switching: circa 1990. Cell. 1990 Nov 16;63(4):665–672. doi: 10.1016/0092-8674(90)90133-y. [DOI] [PubMed] [Google Scholar]
  7. Porteous M. E., Burn J. Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia. J Med Genet. 1990 May;27(5):339–340. doi: 10.1136/jmg.27.5.339. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Weatherall D. J., Higgs D. R., Bunch C., Old J. M., Hunt D. M., Pressley L., Clegg J. B., Bethlenfalvay N. C., Sjolin S., Koler R. D. Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence? N Engl J Med. 1981 Sep 10;305(11):607–612. doi: 10.1056/NEJM198109103051103. [DOI] [PubMed] [Google Scholar]
  9. Wilkie A. O., Buckle V. J., Harris P. C., Lamb J., Barton N. J., Reeders S. T., Lindenbaum R. H., Nicholls R. D., Barrow M., Bethlenfalvay N. C. Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3. Am J Hum Genet. 1990 Jun;46(6):1112–1126. [PMC free article] [PubMed] [Google Scholar]
  10. Wilkie A. O., Gibbons R. J., Higgs D. R., Pembrey M. E. X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males. J Med Genet. 1991 Nov;28(11):738–741. doi: 10.1136/jmg.28.11.738. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Wilkie A. O., Pembrey M. E., Gibbons R. J., Higgs D. R., Porteous M. E., Burn J., Winter R. M. The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance. J Med Genet. 1991 Oct;28(10):724–724. doi: 10.1136/jmg.28.10.724. [DOI] [PMC free article] [PubMed] [Google Scholar]

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

RESOURCES