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A report of 2 cases of Turner's syndrome with a ring X chromosome]
Authors:M V Migliori  E Bartolotta  M Maurizi  P Bonazzi  G Cardinale  V Manunza
Affiliation:Sezione di Citogenetica, Ospedale G. Salesi, Ancona.
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.
Keywords:
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