A report of 2 cases of Turner's syndrome with a ring X chromosome] |
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Authors: | M V Migliori E Bartolotta M Maurizi P Bonazzi G Cardinale V Manunza |
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Affiliation: | Sezione di Citogenetica, Ospedale G. Salesi, Ancona. |
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Abstract: | The authors report two cases of Turner syndrome with clinical evidence of only primitive hypogonadism and short stature. Karyotype analysis showed X ring mosaicism which is present only in 5% of cases of Turner syndrome. The authors agree with the hypothesis suggesting no relationship between break points on the X chromosome and phenotypical aspect. An earlier diagnosis is auspicious so that, using correct therapy, final height should be improved. |
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