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 |
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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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