All issues > Volume 34(11); 1991

Original Article

J Korean Pediatr Soc. 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

Received: August 3, 1991;  Accepted: September 10, 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.

Keywords :De novo trisomy 12p syndrome