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An Unbalanced Translocation of Chromosome 16 Associated with Multiple Congenital Anomalies

Other Title
16번 염색체 불균형 전위 환아에서 나타난 다발성 기형
Authors
이, 지연 | 유, 재은 | 신, 윤혜 | 박, 문성 | 홍, 정
Citation
Journal of the Korean Society of Neonatology, 12(2). : 212-216, 2005
Journal Title
Journal of the Korean Society of Neonatology
ISSN
1226-15132093-7849
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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Journal Papers > School of Medicine / Graduate School of Medicine > Unclassified
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