Table 2

Genotype analyses at the NSD1 locus in six Sotos syndrome cases

MarkersFatherChildMotherInterpretation*
*NI: not informative, pat del: paternal deletion. Allele size are given in base pairs.
Patient 1
    CA1 230/232 210 210/230 Pat del
    CA2 193/199 191 191 Pat del
    CA3 164/176 174 174 Pat del
Patient 2
    CA1 222/230 232 230/232 Pat del
    CA2 189/193 191 189/191 Pat del
    CA3 176/178 174 174 Pat del
Patient 3
    CA1 179/189 203 191/203 Pat del
    CA2231231231NI
    CA3174/176174164/174NI
Patient 4
    CA1 230 224 224 Pat del
    CA2 196/200 194 192/194 Pat del
    CA3 174 178 176/178 Pat del
Patient 5
    CA1223/231231231NI
    CA2189/191189189/191NI
    CA3 178 176 176/178 Pat del
Patient 6
    CA1 223/233 231 231 Pat del
    CA2189/191191191NI
    CA3 163/177 187 163/187 Pat del