[Cytogenetic studies of women with primary amenorrhea].
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Biomedical subjects
Publications and source records attributed to K Boczkowski.
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Five cases of Turner syndrome with rare karyotypes are presented. The spectrum of chromosomal findings ranges from a female karyotype with a deletion of the short arm of one X chromosome, to a normal male karyotype. The following karyotypes were found: one case with 46,XXp--; two cases with 45,X/46,X,r(X); one case with 45,X/47,XYY; and one case with 46,XY.
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Three sisters with XY gonadal dysgenesis are presented. All of them have primary amenorrhea and breast development, and in two, a gonadal tumor, seminoma (dysgerminoma) was found. The danger of gonadal neoplasm in XY females with normal female build is emphasized.
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