All issues > Volume 45(2); 2002

Case Report

J Korean Pediatr Soc. 2002;45(2):273-277. Published online February 15, 2002.

A Case of 4q Deletion with Partial Agenesis of Corpus Callosum

Mi Na MN Kang¹, In Suk IS Lim¹, Byeong Eui BE Kim¹, Myoung Jae MJ Chey¹, Sang Woo SW Kim¹

¹Department of Pediatrics, College of Medicine, Inje University, Seoul, Korea

Correspondence Myoung Jae MJ Chey ,Email: kangmina@orgio.net

Abstract

Syndrome of 4q deletion is characterized by an abnormal shape of the skull, craniofacial dysmorphism, cardiovascular malformations, genitourinary defects, limb and digital anomalies, and developmental delay. We experienced a case of 4q interstitial deletion in a 2 day-old female neonate who showed short extremities, partial agenesis of corpus callosum and congenital heart defects. We report the case with a brief review of the literature.

Keywords :4q deletion, Interstitial deletion, Chromosome 4