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http://dx.doi.org/10.3345/kjp.2010.53.2.158

Clinical disease characteristics according to karyotype in Turner syndrome  

Yeo, Chae Young (Department of Pediatrics, Chonnam National University Medical School)
Kim, Chan Jong (Department of Pediatrics, Chonnam National University Medical School)
Woo, Young Jong (Department of Pediatrics, Chonnam National University Medical School)
Lee, Dae Yeol (Department of Pediatric, Chonbuk National University Medical School)
Kim, Min Sun (Department of Pediatric, Chonbuk National University Medical School)
Kim, Eun Young (Department of Pediatrics, Kwangju Christian Hospital)
Kim, Jong Duck (Department of Pediatrics, Wonkwang University School of Medicine)
Publication Information
Clinical and Experimental Pediatrics / v.53, no.2, 2010 , pp. 158-162 More about this Journal
Abstract
Purpose : 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. Methods : 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.Results : 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). Conclusion : Our results indicate that there are differences clinically according to karyotype of TS, especially in incidence of cardiovascular anomalies.
Keywords
Turner syndrome; Karyotype; Phenotype;
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