All issues > Volume 38(2); 1995

Case Report

J Korean Pediatr Soc. 1995;38(2):240-244. Published online February 15, 1995.

G Deletion Syndrome II

Bon Su BS Koo¹, Sang Uk SU Park¹, Yung Tak YT Lim¹, Hee Ju HJ Park¹

¹Department of Pediatrics, College of Medicine, Pusan National University, Pusan, Korea

Abstract

We experienced a case of G deletion syndrome II in a 8 year and 1 month old boy. He showed mental retardation, microcephaly, high arched palate, low set malformed ears, epicanthal fold, thoracic deformity, tracheomegaly and two lumens of esophagus. Chromosomal study showed the deletion of long arm of chromosome 22, kariotypically he was depicted as 46, XY, 22q-. A brief review of literature was also presented.

Keywords :G deletion syndrome II