Figure 2

Uniparental disomy detected with Affymetrix 500 K AGH in two patients with idiopathic ID. A) The child in Family 6904 was found to have mosaic paternal uniparental disomy, probably isodisomy, of chromosome 11 p15.5-p11.2. SNP genotypes obtained by Affymetrix 500 K AGH and interpreted for the trio as described in the Methods are shown along the length of chromosome 11. B) The child in Family 1658 was found to have maternal uniparental disomy for all of chromosome 16. The ends of both chromosome arms (proximal to 11,559,620 bp and distal to 84,641,383 bp) appear to be isodisomic; the central portion of the chromosome is heterodisomic. SNP genotypes obtained by Affymetrix 500 K AGH and interpreted for the trio as described in the Methods are shown along the length of chromosome 16. C) Allelic imbalance, compatible with paternal isodisomy and mosaicism, for two informative microsatellite markers in the involved region of chromosome 11 in the child in Family 6904. The location of each marker is shown in brackets. D) Maternal heterodisomy for two informative microsatellite markers in the involved region of chromosome 16 in the child in Family 1658. The location of each marker is shown in brackets.