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KMID : 0438520050120020212
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Journal of the Korean Society of Neonatology
2005 Volume.12 No. 2 p.212 ~ p.216
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An Unbalanced Translocation of Chromosome 16 Associated with Multiple Congenital Anomalies
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Lee Ji-Yeon
Yu Jae-Eun
Shin Yun-Hye
Park Moon-Sung
Hong Jeong
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Abstract
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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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KEYWORD
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Chromosome 16, Unbalanced translocation, Congenital anomalies
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