All issues > Volume 38(11); 1995

Case Report

J Korean Pediatr Soc. 1995;38(11):1583-1587. Published online November 15, 1995.

A Case of Ring 14 Chromosome Syndrome

Jeong Hwa JH Choi¹, Han Sang HS Cho¹, Young Tak YT Lim¹, Hee Ju HJ Park¹

¹Departement of Pediatrics, Pusan University, College of Medicine, Pusan, Korea

Abstract

A case of ring 14 chromosome syndrome, confirmed by chromosome study, was dis¡ⓒ cribed. She was 15 months old and manifestated facial abnormalities containing micro¡ⓒ cephaly, flat occiput, hyperterrorism and psychomotor retardation, intractable seizure. Chromosomal study showed the ring 14 chromosome, karyotypic ally she was depicted 46, XY, r(14). A brief review of all literature was also presented.

Keywords :Ring 14 chromosome