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대한생식의학회지 제19권 제1호 2010년
Turner증후군 환자의 세포유전학적 연구
한양대학교 의과대학 산부인과학교실;
정성로;,
Cytogenetic Studies of Turner Syndrome
Chung, Sung-Ro;
Department of Obstetrics and Gynecology, School of Medicine, Hanyang University;
During the years 1983 to 1991, cytogenetic analysis was performed on 19 women with Turner syndrome in order to find out the incidence of symptoms and signs according to the classification of chromosome abnormalities. 1. All of them showed short stature and the mean height in 7 adults was $140.71{\pm}5.26cm$. 2. Among the 19 patients with Turner syndrome, 7 (36.8%) had 45, XO karyotype, 7 (36.8%) had 46, Xi (Xq), and remained 5 (26.3%) had mosaicism. 3. Five patients with mosaicism had 45, X/46, XX (2), 45, X/46, Xi (Xq) (2) and 45, X/47, XXX (1), respectively. 4. Patients with 45, XO and 46, Xi (Xq) had amenorrhea, whereas only 33% (1/3) of patients with mosaicism had amenorrhea. Total incidence of amenorrhea was 84.6% (11/13). 5. Abnormal external genitalia was detected in 63.6% of patients. The incidence of abnormality in patients with mosaicism was lower than that of other groups. 6. OMPC and deafness were detected in 3 of 19 patients. 7. Two cases of cardiovascular abnormalities were found in patients with 45, XO. This study suggests that gnenetic counselling according to the classification of chromosomal abnormalities could be needed in patients with Turner syndrome.
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