All issues > Volume 24(6); 1981

Case Report

J Korean Pediatr Soc. 1981;24(6):589-591. Published online June 15, 1981.

A Case of 18p- Syndrome.

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.

Abstract

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.

Keywords :Craniofacial anomaly;Mental retardation;Chromosome study;46;XX;18p-