[Sporadic Down's syndrome with isochromosome or translocation 21q/21q (author's transl)].
One boy with Down's syndrome was found to be a rearranged chromosome 21q/21q. Cytogenetic analysis by G-banding techniques did not show if the rearranged chromosome was a translocation or an isochromosome. The karyotype of both parents was normal.
D000328:Adult; D002869:Chromosome Aberrations; D002904:Chromosomes, Human, 21-22 and Y; D004314:Down Syndrome / Q000175:diagnosis*; D006801:Humans; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic
Caso esporádico de síndrome de Down com isocromossome ou translocação 21q/21q