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[A report of 2 cases of Turner's syndrome with a ring X chromosome]
M V Migliori1, E Bartolotta, M Maurizi
1Sezione di Citogenetica, Ospedale G. Salesi, Ancona.
Minerva Pediatrica
|September 1, 1991
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.