Down syndrome due to partial trisomy 21q.
A patient is reported with a typical Down syndrome phenotype, caused by patrial trisomy of chromosome 21. Based on the present case and data from the literature, it is suggested that the Down phenotype is due to the trisomy of the distal portion of the band (q22) of chromosome 21.
D002904:Chromosomes, Human, 21-22 and Y; D004314:Down Syndrome; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D014314:Trisomy