J Korean Pediatr Soc.
2002 Feb;45(2):273-277.
A Case of 4q Deletion with Partial Agenesis of Corpus Callosum
- Affiliations
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- 1Department of Pediatrics, College of Medicine, Inje University, Seoul, Korea. 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.
