| One Case of 13q-Syndrome. |
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C O Lee, T H Lee, D W Lee, S J Lee, D.W Lee, D.Y Kang, K.Y Choi, Je G Ghi |
1Department of Pediatrics, Soon Chun Hyang College, School of Medicine, Korea.
2Department of Clinical Pathology, Soon Chun Hyang College, School of Medicine, Korea.
3Department of Medicine, College of Medicine, Seoul National Univ., Seoul, Korea.
4Department of Pathology, College of Medicine, Seoul National Univ., Seoul, Korea. |
| 13q-syndrome 1 례 |
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이종옥, 이태훈, 이동환, 이상주, 이동화, 강득용, 최규완, 지제근 |
1순천향대학 의학부 소아과학교실
2임상병리학교실
3서울대학교 의과대학 내과학교실
4서울대학교 의과대학 병리학교실 |
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| Abstract |
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13 q-syndrome based on loss of specific band was first described by Bain and Gauld in 1963 and may be transmitted if one parents is translocation carrier. We experienced one case of 13p-syndrome with ercephalocele in newborn diagnosed by clinical feature, chromosomal study and autopsy findings. He had multiple anomalies such as microcephaly, hypertelorism, microphthalmia, absent thumbs, clinodactyly, equinovarus, bifid hypoplastic scrotum, microphallus, hypospadia, imperforated anus, anoperineal fistula and ventricular septal defect. A brief review of the related literatures was also resented. |
| Key Words:
13q-syndrome |
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