3p partial trisomy and 13q partial monosomy with congenital malformations and psychomotor developmental delay.


We examined a girl presenting neuropsychomotor developmental delay and multiple malformations including antenatal and postnatal growth retardation, congenital heart defect, and facial dysmorphisms. Cytogenetic analysis was performed on peripheral blood lymphocytes with the GTG-banding technique, which revealed an unbalanced translocation: 46,XX,der(13… (More)
DOI: 10.4238/2013.July.24.7


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