| 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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Department of Pediatrics, College of Medicine, Inje University, Seoul, Korea |
| 뇌량의 부분 발육부전을 동반한 4q Deletion 1례 |
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강미나, 임인숙, 김병의, 최명재, 김상우 |
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인제대학교 의과대학 소아과학교실 |
Correspondence:
Myoung Jae Chey, Email: kangmina@orgio.net
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| Abstract |
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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 review of the literature. |
| Key Words:
4q deletion, Interstitial deletion, Chromosome 4 |
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