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Ann Pediatr Endocrinol Metab > Volume 10(1); 2005 > Article
A Case of Down-Turner Syndrome.
Hee Jeong Jeong, Eun Sil Lee, Kwang Hae Choi, Yong Hoon Park
Department of Pediatrics, Collage of Medicine, Yeungnam University, Daegu, Korea. les2055@yumail.ac.kr
Abstract
Down-Turner syndrome is a rare disease with the incidence of 1 in 2 million. Although Down syndrome with various Turner's karyotype were reported occasionally since a report in 1962, it was not reported in Korea. We experienced a case of Down-Turner syndrome with 47, X, del(X)(p11.2), +21/ 47, XX, +21, who has clinical features of Down syndrome such as hypotonia, weak Moro reflex, round and wide face, flat occiput, epicanthal folds, upward slanting of the palpebral fissures, low set ears, a simian line on both palms and the brachydactyly of the right little finger with the appearance of Turner syndrome such as the edema of hands, webbed neck. We think it will be necessary to follow up the patient in regard to the aspects such as infertility, sexual infantilism, and primary amenorrhea.
Keywords: Down-Turner syndrome;Down syndrome;Turner syndrome


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