[Cytogenetic studies in primary amenorrhoea]

Thirty-nine patients with primary amenorrhoea were examined, with twelve of them exhibiting chromosomal aberrations. The classical chromosomal pattern of Turner's syndrome with 45,XO was exhibited by seven patients, while mosaicism was displayed in the karyogram of three. A typical iso-X-chromosome was established from a young girl without Turner's stigmata. Genuine gonadal dysgenesis without any chromosomal abnormality was recorded from four cases by means of ovarian biopsy through laparoscopy.