Turner's syndrome with XO/XXp- karyotype: a case report

Abstract

An unusual case of Turner's syndrome is presented. The case highlights the importance of chromosome analysis in patients presenting with primary amenorrhoea. This patient demonstrates the effects of mosaicism and the importance of the long and short arms of the X chromosome. Deletion of the short arm has only been reported in 2 previous cases of Turner's syndrome. The absence of the short arm is believed to be responsible for the shortness in stature in these patients.