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  • Title: [Turner syndrome. Cytogenetic analysis of 165 patients with Turner syndrome. 1st report].
    Author: Vignetti P, Brinchi V, Bruni L, Rizzuti A, Tarani L, Tozzi MC.
    Journal: Minerva Pediatr; 1990; 42(1-2):25-7. PubMed ID: 2336052.
    Abstract:
    Results are reported of a cytogenetic study on 165 patients with Turner syndrome, based on sex chromatin and karyotype tests. We found that the karyotype 45,X is present only in 54.54% of the cases in homogeneous form and in about 14% of the cases in mosaic form associated with a normal clone 46,XX or, rarely, also with a clone 47,XXX; in the other cases X structural anomalies and different kinds of mosaic forms are present. We also found 5 pregnancies in 2 patients: only 2 daughters were born and alive, the first was normal and the second presented the same karyotype and clinical picture of her mother.
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