Partial trisomy 17q. Karyotype: 46,XY,der(21),t(17;21)(q22;p13).
A 15-year-old deeply mentally retarded male is described with partial distal 17q trisomy (17q22 replaced by 17qter),as the result of a de novo 17q/21p translocation. Differential Ag-staining showed that the satellites of chromosome 21 were included in the translocation chromosome.
D000293:Adolescent; D002902:Chromosomes, Human, 16-18; D002904:Chromosomes, Human, 21-22 and Y; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy