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

Kang, Mi Na (Department of Pediatrics, College of Medicine, Inje University)
Lim, In Suk (Department of Pediatrics, College of Medicine, Inje University)
Kim, Byeong Eui (Department of Pediatrics, College of Medicine, Inje University)
Chey, Myoung Jae (Department of Pediatrics, College of Medicine, Inje University)
Kim, Sang Woo (Department of Pediatrics, College of Medicine, Inje University)
Publication Information
Clinical and Experimental Pediatrics / v.45, no.2, 2002 , pp. 273-277 More about this Journal
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;
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