All issues > Volume 34(12); 1991

Original Article

J Korean Pediatr Soc. 1991;34(12):1736-1739. Published online December 31, 1991.

A case of 13-ring chromosome syndrome.

Jong Soo Lee¹, Yong Tae Jung¹, Byung Hak Lim¹, Im Ju Kang¹

¹Department of Pediatrics, Fatima Hospital, Taegu, Korea

Received: May 10, 1991;  Accepted: July 25, 1991.

Abstract

We have experienced a case of 13-ring chromosome syndrome in 9 month old girl who had microcephaly, trigonocephaly, hypertelorism, microophthalmia, broad prominent nasal bridge, high arched palate & speech defect. On X-ray study, brain computerized tomograpy showed Dandy-Walker variant. Chromosome study revealed 13-ring chromosome. Her mother had mild mental retardation, short stature, microcephaly, trigonocephaly, hypertelorism and micrognathia. A brief review of the literatures was also presented.

Keywords :13-ring chromosome syndrome