a b c d Supplementary Figure 1 Normal male, 3 copies Normal female, 3 copies b Patient 3, 8 copies c Patient 4, >10 copies d Supplementary Figure 1  (a-d) Pyrograms from a normal male, a normal female and Patients 3 and 4. The sequence analysed was GACARTGTC(C/T)GA. The dNTP dispensation order of CGACAGCTGTCTGA (reference peaks) is shown along the X axes and the height of each peak (that is proportional to the number of nucleotides incorporated) is depicted on the Y axes. The total chromosome 16 copy number was calculated using the values determined by the Allele Quantification Software where the peak heights of the Paralogous Sequence Mismatches (right hand shaded region) are compared to the reference peaks. The C is present on band 16p11.2 and the T on band Xq28. (a) Normal male with a total diploid copy number of three: chromosome X = 22.5% (1 copy), chromosome 16 = 77.5% (3 copies); (b) Normal female with a total diploid copy number of three: chromosome X = 43.9% (2 copies), chromosome 16 = 56.1% (3 copies); (c) Patient 3 with a total diploid copy number of 8: chromosome X = 21.3% (2 copies), chromosome 16 = 78.7% (8 copies); (d) Patient 4 with a total diploid copy number of greater than 10: chromosome X = 12.8% (2 copies), chromosome 16 = 87.2% (>10 copies).