Chromosome study in primary amenorrhea

Primary amenorrhea was studied in 64 women. Chromosome abnormalities or karyotype-phenotype non-conformity were found in 31 of 64 patients (48.4%). The following types of chromosomal pathology were found out: 7 cases with 45,X constitution; 3--45,X/46,XX; 1--45,X/46,XY; 1--45,X/46. XYq-; 1--46,XXq-; 1--45,X/46,XXq-; 2--46,X,i(qX); 2--45,x/46,X,i(qX); 1--45,X/46,XX, +mar. In 12 cases phenotypic women had a 46,XY karyotype.