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An Unbalanced Translocation of Chromosome 16 Associated with Multiple Congenital Anomalies
Journal of the Korean Society of Neonatology ; : 212-216, 2005.
Article in Korean | WPRIM | ID: wpr-56293
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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Full text: Available Index: WPRIM (Western Pacific) Main subject: Anus, Imperforate / Chromosomes, Human, Pair 16 / Single Umbilical Artery / Hearing Loss, Sensorineural / Heart Septal Defects, Ventricular Language: Korean Journal: Journal of the Korean Society of Neonatology Year: 2005 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Anus, Imperforate / Chromosomes, Human, Pair 16 / Single Umbilical Artery / Hearing Loss, Sensorineural / Heart Septal Defects, Ventricular Language: Korean Journal: Journal of the Korean Society of Neonatology Year: 2005 Type: Article