[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.
D002675:Child, Preschool; D002871:Chromosome Banding; D002904:Chromosomes, Human, 21-22 and Y; D002905:Chromosomes, Human, 4-5; D004314:Down Syndrome / Q000235:genetics; D006801:Humans; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy
Trisomie partielle pour le segment 21(q11----qter) résultant d'une translocation de novo entre les chromosomes 5 et 21.