Cytogenetic Studies in Primary Amenorrhea

Moon,  SY; Cha,  SH; Lee,  JY; Chang,  YS

Original Article

Korean Journal of Fertility and Sterility 1985;12(2):59-64.

SY Moon, SH Cha, JY Lee, YS Chang

Department of Obstetrics and Gynecology, College of Medicine, Seoul National University

원발성 무월경환자의 세포유전학적 연구

문신용, 차상헌, 이진용, 장윤석

서울대학교 의과대학 산부인과학교실

Abstract

This investigation represents a cytogenetic study of 382 women with primary amenorrhea. 235 cases (61.5%) showed normal karyotype, 46, XX and l47 cases (38.5%) showed chromosomal abnormalities. Of 144 females with cytogenetic abnormalities, 44 cases (30.0%) showed a 45, X constitution: 37 cases (25.2%) with 45, X/46, XX: 3 (2.0%) 45, X/47, XXX: 11 (7.5%) 45, X/46, XX/47, XXX: 1 (0.7%) 45, X/46, XY: 3 (2.0%) 46, $XX_{p-}$: 2 (1.4%) 46, $XX_{q-}$: 6 (4.1%) 46, X, i ($X_q$): 1 (0.7%) 45, X/46, $XX_{q+}$: 1 (0.7%) 45, X/46, XX, inv(X): 1 (0.7%) 45, X, inv (9)/47, XXX, inv(9). 36 women (24.5%) had a 46, XY constitution and 1 case (0.7%) had a 47, XXX constitution.