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A Case of Multiple Congenital Abnormalities Associated with Ring Chromosome 13.

Journal of the Korean Pediatric Society 1988;31(4):506-510.
Published online April 30, 1988.
A Case of Multiple Congenital Abnormalities Associated with Ring Chromosome 13.
Yung Hyuk Lee, Dong Won Choi, Chang Jun Coe, Kir Young Kim
Department of Pediatrics, Yonsei University, College of Medicine, Seoul, Korea
13 환 (Ring) 염색체 증후군 1례
이영혁, 최동원, 고창준, 김길영
연세대학교 의과대학 소아과학교실
Received: 28 November 1987   • Accepted: 28 November 1987
Abstract
A case of ring chromosome 13 has been experienced in 1 year and 9 month old female child recently. This female child manifested psychomotor retardation and multiple congenital anomalies. The diagnosis was made on the basis of typical morphologic features and chromosome study. As this is the first case in Korea, it is worthwhile to report with reviewing literature.
Key Words: Ring chromosome 13


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