Familial Turner Syndrome

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Abstract
Women [7] in 3 generations of a family were affected by Turner syndrome. Turner phenotype in this family is the result of deletion of the entire short arm of 1 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. Xga typing of erythrocytes suggest that the Xg locus is on the short arm of the X chromosome. Because of the clinical implications, families of persons with structural chromosomal abnormalities should be studied to exclude familial transmission.