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Clinical disease characteristics according to karyotype in Turner syndrome

Korean Journal of Pediatrics 2010;53(2):158-162.
Published online February 15, 2010.
Clinical disease characteristics according to karyotype in Turner syndrome
Chae Young Yeo1, Chan Jong Kim1, Young Jong Woo1, Dae Yeol Lee2, Min Sun Kim2, Eun Young Kim3, Jong Duck Kim4
1Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea
2Department of Pediatric, Chonbuk National University Medical School, Jeonju, Korea
3Department of Pediatrics, Kwangju Christian Hospital, Gwangju, Korea,
4Department of Pediatrics, Wonkwang University School of Medicine, Iksan, Korea
터너증후군에서 핵형에 따른 임상질환의 발병양상
여채영1, 김찬종1, 우영종1, 이대열2, 김민선2, 김은영3, 김종덕4
1전남대학교 의과대학 소아과학교실
2전북대학교 의학전문대학원 소아과학교실
3광주기독병원 소아청소년과
4원광대학교 의학전문대학원 소아과학교실
Chan Jong Kim, Tel: +82.62-220-6646, Fax: +82.62-222-6103, Email: cjkim@chonnam.ac.kr
: Turner syndrome (TS) is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype.
: We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals from Jan 1998 to Dec 2007. We evaluated these cases by prepared protocol of 4 medical problems.
: The distribution of karyotype was 45,X (47.8%), mosaic pattern (34.4%) and structural aberration group (17.8 %). Renal anomalies, cardiovascular anomalies, thyroid disorders and auditory problems are accompanied in 4.4%, 10.0 %, 11.1% and 5.6%, respectively. 45,X group had renal anomalies (7.0%), cardiovascular anomalies (18.6%), thyroid disorders (9.3%) and auditory problems (11.6%). Mosaic group had renal anomalies (3.2%), thyroid disorders (12.9%), no cardiovascular anomalies and auditory problems. Structural aberration group had cardiovascular anomalies (6.3%), thyroid disorders (12.5%) and no other 2 problems. Patients with 45,X group had a significant higher incidence of cardiovascular anomalies (P=0.025).
: Our results indicate that there are differences clinically according to karyotype of TS, especially in incidence of cardiovascular anomalies.
Key Words: Turner syndrome, Karyotype, Phenotype

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