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Eleven Cases of Turner Syndrome.

Journal of the Korean Pediatric Society 1983;26(1):91-96.
Published online January 31, 1983.
Eleven Cases of Turner Syndrome.
Jong Sub Lee, Hack Joo Cha, Ki Bok Kim
Department of Pediatrics, Kwangju Christian Hospital,Kwangju, Korea
Turner 증후군 11례
이종섭, 차학주, 김기복
광주기독병원 소아과
Abstract
Among the patients who have been referred to our Cytogenetic Laboratory with the suspicion of Turner Syndrome during the past 8 years, eleven were confirmed by cytogenetic analyses. Clinical features and the results of cytogenetic analyses of those cases are summarized as follows: 1) The patients, all females, ranged in age from 16 to 25 years at the time of first consultation, and their chief complaints were sexual infantilism with primary amenorrhea and short stature. 2) Clinically, short stature and sexual infantilism with primary amenorrhea was found in all casesi with shield chest in 82%; nevi in 45%; cubitus valgus in 36%; short metacarpals and webbed neck in 27%; and high arched palate and mental retardation in 18%. 3) Sex chromatin studies by buccal smear were done in 9 cases, and were negative in 6 cases (45, X, 46, XX, del(Xp)), positive in 8.9% of cells in 1 case(45, X/46, XX), and above 50% in 2 cases (46, X,i(Xq). 4) The karyotypes obtained from the cultured peripheral lymphocytes showed; i) 45, X in 5 cases ii) 45, X/46, XX in 2 cases iii) 46, XX, del(Xp) in 2 cases and iv) 46, X,i(Xq) in 2cases.
Key Words: Turner syndrome.


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