J Korean Soc Neonatol.
2005 Nov;12(2):212-216.
An Unbalanced Translocation of Chromosome 16 Associated with Multiple Congenital Anomalies
- Affiliations
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- 1Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea. drparkms@ajou.ac.kr
- 2Department of Pediatric Surgery, Ajou University School of Medicine, Suwon, Korea.
Abstract
- We present a case of de novo reciprocal unbalanced translocation of chromosome 16, [46, XX, 8p+, der(8)t(8;16)(p23;q13)enh(16)], associated with clinical features, including anal atresia, vertebral anomaly, urogenital anomaly, single umbilical artery, ventricular septal defect and bilateral sensorineural hearing losses.
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