De novo reciprocal 1p;2q translocation in a child with multiple congenital anomalies/mental retardation syndrome |
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| Authors: | D Chitayat C L Fagerstrom D K Kalousek J Rootman G P Taylor J G Hall |
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| Institution: | Department of Medical Genetics, Shaughnessy Hospital, Vancouver, Canada. |
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| Abstract: | A newborn male infant was found to have an unusual pattern of congenital anomalies associated with an apparently balanced de novo reciprocal translocation: 46,XY,t(1;2)(p22;q22). The infant had a previously apparently undescribed multiple congenital anomalies and mental retardation syndrome. |
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