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Familial Turner Syndrome

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.; and KAREN L. MEILINGER, B.S.
[+] Article and Author Information

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.


Detroit, Michigan


© 1978 American College of PhysiciansAmerican College of Physicians


Ann Intern Med. 1978;89(4):473-476. doi:10.7326/0003-4819-89-4-473
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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.

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