Clinical and Cytogenetic Features in Turner Syndrome.

Choi, Young Min; Jee, Byung Chul; Choe, Jin; Oh, Sun Kyung; Hwang, Do Yeong; Suh, Chang Suk; Kim, Seok Hyun; Kim, Jung Gu; Moon, Shin Yong; Lee, Yong Hee; Lee, Jin Yong

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Obstet Gynecol Sci > Volume 43(2); 2000 > Article

Original Article

Korean Journal of Obstetrics & Gynecology 2000;43(2):295-301.
Published online: January 1, 2001

Clinical and Cytogenetic Features in Turner Syndrome.

Young Min Choi, Byung Chul Jee, Jin Choe, Sun Kyung Oh, Do Yeong Hwang, Chang Suk Suh, Seok Hyun Kim, Jung Gu Kim, Shin Yong Moon, Yong Hee Lee, Jin Yong Lee

Abstract

OBJECTIVE
To identify cytogenetic diversity of Turner syndrome, and its correlation with clinical manifestation including fertility. METHOD: From 1986 to 1996, we reviewed medical records of 137 patients, cytogenetically and clinically diagnosed as Turner syndrome. Cytogenetic study was performed using peripheral lymphocytes with GTG banding. Marker chromosomes were re-evaluated by quinacrine staining. RESULTS: Overall incidence of mosaic pattern was 57.7% in Turner syndrome, showing 45,X line combined with structural anomalies of X chromosome(n=39), marker chromosome(n=22), numerical abnormalities of sex chromosome(n=6), and 46,XX(n=5). With comparison of clinical manifestation in 45,X/46,XX(n=5) and four most common pattern, 45,X(n=42), 45,X/46,X,i(Xq)(n=26), 45,X/46,X,+mar(n=22), 46,X,i(Xq)(n=9), there was no significant differences statistically, except short stature and diabetes. Incidence of short stature was significantly higher in 45,X or 46,X,i(Xq) than 45,X/46,XX(78.6%, 88.9%, 20.0%), and significant difference existed in incidence of diabetes between 45,X and 46,X,i(Xq)(0%, 22.2%). Sixteen patients had a history of marriage, but only one had a history of spontaneous conception and delivery with mosaic 45,X[2]/51,XXXXXXX[1]/46,XX[47]. CONCLUSION: The karyotypes of Turner syndrome was very variable, and about 60% had mosaicism. Patients with 45,X/46,XX had a significant lower incidence of short stature than in 45,X or 46,X,i(Xq), and 46,X,i(Xq) had a significant higher incidence of diabetes than in 45,X. We identified a woman with mosaic 45,X/51,XXXXXXX/46,XX was fertile.

Keywords: Turner syndrome; phenotypic correlation; spontaneous conception

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