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.
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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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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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