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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
Neonatal medicine, 12(2):212-216, 2005
Journal Title
Neonatal medicine; 대한신생아학회지
ISSN
2287-94122287-9803
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.
Keywords
Chromosome 16Unbalanced translocationCongenital anomalies
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Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
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