Journal of the Korean Pediatric Society 1991;34(11):1581-1586.
Published online November 30, 1991.
A case of de Novo trisomy 12p syndrome.
Young Huuk Lee1, Kir Young Kim2
1Department of Pediatrics, Konkuk University College of Medicine, Seoul, Korea
2Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea
De Novo Trisomy 12p 증후군 1례
이영혁1, 김길영2
1건국대학교 의과대학 소아과학교실
2연세대학교 의과대학 소아과학교실
Received: 3 August 1991   • Accepted: 10 September 1991
Abstract
A case of de novo trisomy 12p syndrome has deen experienced in newborn male child recently. This male child manifested normal birth weight, weak crying, poor sucking, generalized hypotonia, multiple congenital anomalies on face and digits, and progressive psychomotor retardation. The diagnosis was made on the basis of typical morphologic features and chromosomal study. As this is the first case in Korea, it is worthwhile to report with reviewing literature.
Key Words: De novo trisomy 12p syndrome




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