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.
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.
LEICHTMAN DA, SCHMICKEL RD, GELEHRTER TD, JUDD WJ, WOODBURY MC, MEILINGER KL. Familial Turner Syndrome. Ann Intern Med. 1978;89:473–476. doi: 10.7326/0003-4819-89-4-473
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Published: Ann Intern Med. 1978;89(4):473-476.
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