Abstract

Two sisters with 45,X Turner's Syndrome are described. A third and fourth sister as well as a brother, father and mother have normal phenotypes and karyotypes. To our knowledge this represents the only reported sibship in which two sisters have the 45,X karyotype. It is unlikely that these findings are the result of random errors in meiosis. Rather, the exact similarity of the sister's aneuploidy suggests the existence of a tendency for precise malfunction of the meiotic process. Since similar syndromes have not been observed in other members of the family, it is possible that thismalfunction arose as a mutation in one or the other parent's germ cell line. An equally plausable explanation would be the presence of mosaicism in either parent's gonadal tissue.

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