[Partial trisomy for the segment 21(q11----qter) resulting from a de novo translocation between chromosomes 5 and 21]

A 3 1/2-year-old boy is described whose Down syndrome resulted from partial 21 trisomy through unbalanced de novo translocation between the long arm of chromosome 21 and the short arm end of a No. 5: 46,XY,t(5;21)(p15;q11). This case is discussed and compared with 17 others collected from the literature, some of which derived from a maternal balanced translocation.