[Franciszek Neugebauer's contribution to hermaphroditism studies in the human].
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Biomedical subjects
Publications and source records attributed to K Boczkowski.
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Cytogenetic studies and clinical investigations were performed in 44 cases of pure gonadal dysgenesis. The mean height of the females with the 46,XY karyotype was 6.6 cm higher than that of the females with the 46,XX karyotype. The greater difference found between normal males and females from the general population could therefore be related mainly to the hormonal influence of the testes during pre- and postnatal life.
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Four girls with some clinical symptoms of Turner's syndrome had Xq duplication and Xp deficiency, their karyotypes being 46,X,dup(X)(p113;q11), 46,X,dup(X)(p212;q211), 46,X,dup(X)(p225;q13), and 46,X,dup(X)(p222;q213). No mosaicism was found. The major clinical findings, short stature, lack of pterygium colli, and no continuous gamete production, are compared with those in three previously published cases.
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