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Journal of the Korean Society of Neonatology 2005;12(2):212-216.
Published online November 1, 2005.
An Unbalanced Translocation of Chromosome 16 Associated with Multiple Congenital Anomalies.
Ji Yeon Lee, Jae Eun Yu, Yun Hye Shin, Moon Sung Park, Jeong Hong
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.
16번 염색체 불균형 전위 환아에서 나타난 다발성 기형
, , , ,
1
2
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.
Key Words: Chromosome 16, Unbalanced translocation, Congenital anomalies


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