- Case Report
- A case of isodicentric chromosome 15 presented with epilepsy and developmental delay
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Jon Soo Kim, Jinyu Park, Byung-Joo Min, Sun Kyung Oh, Jin Sun Choi, Mi Jung Woo, Jong-Hee Chae, Ki Joong Kim, Yong Seung Hwang, Byung Chan Lim
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Clin Exp Pediatr. 2012;55(12):487-490. Published online December 20, 2012
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We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could... |
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- A Case of 3p Partial Trisomy
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Jeong Eun Park, Il Soo Kim, Moo Young Song, Eun Ryoung Kim, Shin Young Moon, Sun Kyung Oh
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Clin Exp Pediatr. 1996;39(6):873-880. Published online June 15, 1996
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3p partial trisomy is a rare chromosomal anomaly. We experienced a case of 3p
partial trisomy in a male neonate. It was diagnosed by clinical and chromosoaml study. He had multiple anomalies such as brachycephaly, wide open fontanelle, square face, hypertelorism, mongoloid palpebral fissure, micrognathia, low set malformed ear, bilateral cleft lip and palate, double outlet right ventricle, atrial septal defect,... |
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