- Original Article
- The Usefulness of Fluorescence in Situ Hybridization(FISH) in the Diagnosis of Prader-Willi Syndrome
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Young Ho Yang, Duk Hee Kim, So Chung Chung, Yong Seok Sohn, Mee Sun Kim
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Clin Exp Pediatr. 2000;43(3):360-364. Published online March 15, 2000
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Purpose : To detect microdeletion of 15q11-13 region, high resolution cytogenetic analysis or FISH with probe at Prader-Willi syndrome region can be used. We tried to evaluate whether FISH with SNRPN is a more effective method than G-banding microscope in the diagnosis of Prader-Willi syndrome.
Methods : Peripheral blood sampling was done on five patients who we suspected of Prader-Willi syndrome... |
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- A Clinical Studies in Patients with Turner's Syndrome.
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Chang Hyun Yang, Duk Hi Kim, Kir Young KIm, Young Ho Yang
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Clin Exp Pediatr. 1987;30(10):1143-1151. Published online October 31, 1987
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This study is systematical cytogenetic and clinico-hormonal analysis of 42 cases who were
diagnosed as Turner’s syndrome at the Yonsei Medical Center from Jan. 1971 to Dec. 1985. The
careful history taking, physical examination, cytogenetic studies, radiologic and hormonal evalua-
tion, and GnRH stimulation test were performed.
The results were as follows.
1) The patients ranged in age from 14 months to 30 years at the... |
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- Case Report
- A Case of Sarcoma Botryoides
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Heun Young Moon, Min Ann, Won Chull Kim, Young Ho Yang, Jung Sil Cho
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Clin Exp Pediatr. 1975;18(2):135-139. Published online February 28, 1975
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Sarcoma Botryoides is defined as a juvenile variant of mesenchymal sarcoma of the urogenital tract, almostly vagina. It is very rare polypoid grapelike malignant neoplasm of mesenchymal origin in infants and
children. In Korea, 5 cases were reported before this report. A case of Sarcoma Botryoides of Korean female of 3yr and 10 month old was admitted due to protruding mass... |
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