Table 1.

Percentages of whole chromosome 21 gain and loss in the brain vary within and among individuals

Aneuploid karyotype
Age (years) Cell type % Disomy % Tetrasomy % Monosomy % Trisomy % Aneuploidy Mean chromosome number
2 Frontal cortex cells 94.3 2.5 1.7 1.5 3.2 2.05
15 Occipital cortex cells 93.8 2.4 2.2 1.6 3.8 2.04
35 Frontal cortex cells 93.9 2.4 1.8 1.8 3.6 2.05
48 Frontal cortex cells 93.8 2.6 1.6 2.0 3.6 2.06
77 Hippocampal cells 91.5 3.8 2.6 2.3 4.8 2.07
86 Hippocampal cells 92.4 2.4 3.0 2.2 5.2 2.04
Average Brain cells 93.3 2.7 2.1 1.9 4.0 2.05
33 Lymphocytes 99.8 0.2 0.4 0.2 0.6 2.00
<0 Down's syndrome neural cells 7.1 3.6 0 89.3 89.3 2.96
  • Lymphocytes and Down's syndrome cells were used to validate the counting criteria using chromosome 21 FISH probes.