| A Case of 18p- Syndrome. |
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Jin Tae Kim1, Byoung Soo Cho1, Chang Hyo Lee1, Chang Il Ahn1, Kap Soon Ju2 |
1Department of Pediatrics, School of Medicine Kyung Hee University, Seoul, Korea.
2Department of Obstetrics and Gynecology, School of Medicine Kyung Hee University, Seoul, Korea. |
| 18p- 증후군 1예 |
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김진태1, 조병수1, 이창효1, 안창일1, 주갑순2 |
1경희대학교 의과대학 소아과학교실
2경희대학교 의과대학 산부인과학교실 |
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| Abstract |
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We have experienced a case of 18p- syndrome in 22 month old girl who had craniofacial anomaly such as microcephaly, hypertelorism, nystagmus, depressed nasal bridge, complete bilateral cleft palate, both ear canal stenosis and mental retardation. Chromosome culture revealed short arm deletion of chromosome 18 in E group. As far as we know, this case is the first report of 18p- syndrome in Korea and brief review of related literature was made. |
| Key Words:
Craniofacial anomaly, Mental retardation, Chromosome study, 46, XX, 18p- |
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