De novo distal trisomy 17q.
A boy is described, who shares many of the clinical features found in the few patients with a partial 17q trisomy known at present. Karyotyping revealed a de novo 17q+ chromosome, interpretable as a tandem duplication of the distal long arm region 17q25.
D002675:Child, Preschool; D002871:Chromosome Banding; D002902:Chromosomes, Human, 16-18; D005145:Face / Q000002:abnormalities; D006801:Humans; D008297:Male; D014314:Trisomy