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This investigation represents a cytogenetic study of 50 women with primary amenorrhea and 50 women of known fertility. The latter served primarily as technical controls for buccal smear and chromosome analyses. Nineteen of 50 patients with primary amenorrhea were found to have a chromosome abnormality. These included: nine with a 45,X constitution; two 45,X/46,XX/47,XXX; one 45,X/46,X,i(Xq); one 46,X,i(Xq); and one 46,XXq−. There were two patients with a translocation between two C group chromosomes; one was 46,XX,t(10q+; 12q−) and the other 46,X,t(Xq−; 12q+). Three “women” had a 46,XY constitution. The incidence of the various causes of primary amenorrhea, cytogenetic and others, is discussed.

Cells cultured from the amniotic fluid of a 22-week fetus in a heterozygote for the X-linked Lesch-Nyhan mutation, which results in neurological and developmental disorders, lacked sex chromatin and were unable to incorporate hypoxanthine. The diagnosis of a mutant male was confirmed upon birth of enzyme-deficient, hyperuricemic twin boys whose amniotic membrane cells failed to incorporate hypoxanthine.