A Case of 4q Deletion with Partial Agenesis of Corpus Callosum.
- Author:
Mi Na KANG
1
;
In Suk LIM
;
Byeong Eui KIM
;
Myoung Jae CHEY
;
Sang Woo KIM
Author Information
1. Department of Pediatrics, College of Medicine, Inje University, Seoul, Korea. kangmina@orgio.net
- Publication Type:Case Report
- Keywords:
4q deletion;
Interstitial deletion;
Chromosome 4
- MeSH:
Agenesis of Corpus Callosum*;
Chromosomes, Human, Pair 4;
Extremities;
Female;
Heart Defects, Congenital;
Humans;
Infant, Newborn;
Skull
- From:Journal of the Korean Pediatric Society
2002;45(2):273-277
- CountryRepublic of Korea
- Language:Korean
-
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.
