An Unbalanced Translocation of Chromosome 16 Associated with Multiple Congenital Anomalies.

Lee,  Ji Yeon; Yu,  Jae Eun; Shin,  Yun Hye; Park,  Moon Sung; Hong,  Jeong

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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

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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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