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

Journal of the Korean Pediatric Society 2002;45(2):273-277.
Published online February 15, 2002.
A Case of 4q Deletion with Partial Agenesis of Corpus Callosum
Mi Na Kang, In Suk Lim, Byeong Eui Kim, Myoung Jae Chey, Sang Woo Kim
Department of Pediatrics, College of Medicine, Inje University, Seoul, Korea
뇌량의 부분 발육부전을 동반한 4q Deletion 1례
강미나, 임인숙, 김병의, 최명재, 김상우
인제대학교 의과대학 소아과학교실
Correspondence: 
Myoung Jae 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.
Key Words: 4q deletion, Interstitial deletion, Chromosome 4


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