Partial trisomy 2q and familial translocation t(2;12)(q31;q24)

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Abstract
Report is given of a boy with trisomy of the distal part of the long arm of chromosome 2 (q31→ter) due to a balanced 2/12 translocation in the mother: 46,XX,t(2;12) (q31;q24). Other phenotypically normal carriers of this balanced translocation are the patients sister and grandfather. The patient shows a variety of dysplastic signs mainly of the face.