- Case Report
- A Case of 4q Deletion with Partial Agenesis of Corpus Callosum
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Mi Na Kang, In Suk Lim, Byeong Eui Kim, Myoung Jae Chey, Sang Woo Kim
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Clin Exp Pediatr. 2002;45(2):273-277. Published online February 15, 2002
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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... |
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