[Chromosome studies in gynecology]

Clinical indications for chromosome analysis in patients with gynaecological problems are well defined. These include, with primary or secondary amenorrhoea, infertility and repeated miscarriages in adults or retarded puberty and abnormal sexual development in young girls. The type of chromosome abnormality, the incidence, and the management of patients are discussed with reference to 15 years' experience in the Department of Cytogenetics at Tygerberg Hospital. The cytogenetics of 419 patients with amenorrhoea are discussed under headings such as gonadal dysgenesis, monosomy X, chromosome mosaics and the XY female phenotype. Results of chromosome studies in 540 males with a low sperm count are given. The importance of chromosome studies in repeated miscarriages and genetic counselling for carriers of balanced translocations is stressed.