[Partial trisomy 21 (21q21 - 21q22.2)].
An abnormal chromosome 21 is reported in a child with a phenotype strongly reminiscent of trisomy 21 syndrome. It is shown to result from duplication of the segment 21q21 leads to 21q22.2. Comparison of the phenotype with that of other partial and total trisomics shows that the characteristic features of the trisomy 21 syndrome (mongolism), the mental retardation in particular - is due to trisomy 21q22.2 and perhaps 21q22.2.
D000469:Alkaline Phosphatase / Q000097:blood; D002648:Child; D002904:Chromosomes, Human, 21-22 and Y; D003878:Dermatoglyphics; D004314:Down Syndrome / Q000175:diagnosis*; D006801:Humans; D008297:Male; D013482:Superoxide Dismutase / Q000097:blood; D014314:Trisomy
D013482:Superoxide Dismutase; D000469:Alkaline Phosphatase
Trisomie 21 partielle (21q21 leads to 21q22.2)