Trisomy 9 mosaicism with multiple congenital anomalies

9号染色体三体嵌合体伴多发性先天性异常

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Abstract

A nine-year-old male with developmental abnormalities was found to be mosaic for an extra No. 9 chromosome (46,XY/47,XY,+9). The clinical findings included severe mental retardation, peculiar facies, short stature, hypotonia, dextroposition with a ventricular septal defect, and patent ductus arteriosus, as well as significant abnormalities of the brain.

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