Chromosome survey in some clinical disorders in Northern Nigeria I : Primary amenorrhoea

Cytogenetic studies were carried out on twenty three phenotypic females presenting with primary amenorrhoea. Metaphase chromosomes for analysis were obtained from cultured peripheral blood leucocytes and interphase cells for X-chromatin studies from the buccal mucosa. Eight of the twenty three patients (34.8%), had karyotypes that could be attributed to be the cause of their primary amenorrhoea. Four of these eight had a normal 46,XY chromosome complement, whereas the remaining four showed mosaicism for sex chromosome abnormalities; three with 45,X/46,XX karyotypes and one with a45,X/46,XY karyotype. The X-chromatin status was in keeping with the karyotype in all cases.