DAVID A. LEICHTMAN, M.D.; ROY D. SCHMICKEL, M.D.; THOMAS D. GELEHRTER, M.D.; WALTER J. JUDD, F.I.M.L.S.; MARGARET C. WOODBURY, M.D.; KAREN L. MEILINGER, B.S.
Grant support: in part by National Foundation Grant C-111 and National Institutes of Health Service Award 1-T32-GM-07123.
The results of this investigation were presented in part at the meeting of the American Society of Human Genetics, San Diego, 22 October 1977.
▸Requests for reprints should be addressed to David A. Leichtman, M.D.; Providence Hospital, 16001 West Nine Mile Rd.; Southfield, MI 48075.
LEICHTMAN D., SCHMICKEL R., GELEHRTER T., JUDD W., WOODBURY M., MEILINGER K.; Familial Turner Syndrome. Ann Intern Med. 1978;89:473-476. doi: 10.7326/0003-4819-89-4-473
Download citation file:
Published: Ann Intern Med. 1978;89(4):473-476.
Seven women in three generations of a family have been affected by Turner syndrome. Turner phenotype in this family is the result of deletion of the entire short arm of one X chromosome. The short arm deletion is transmitted by carriers of a balanced X-1 translocation. Autoradiographic findings showed that the deleted X chromosome was late labeling in those persons with Turner syndrome, whereas the normal X chromosome was late replicating in carriers of the balanced translocation. The results of Xga typing of erythrocytes suggest that the Xg locus is on the short arm of the X chromosome. Because of the clinical implications, we believe that families of persons with structural chromosomal abnormalities should be studied to exclude familial transmission.
to gain full access to the content and tools.
Learn more about subscription options.
Register Now for a free account.
Results provided by:
Copyright © 2016 American College of Physicians. All Rights Reserved.
Print ISSN: 0003-4819 | Online ISSN: 1539-3704
Conditions of Use
This PDF is available to Subscribers Only