Fig. 18.

Study showing post zygotic origin of gonadal mosaicism. A Maternal buccal CMA follow-up from the mother of two 6q- offspring revealing a mosaic ~ 11% deletion, red bar. B Maternal buccal follow-up from the mother of two offspring with a 4p deletion-duplication showing ~ 25% deletion (red bar) and duplication (blue bar). Note that the presence of heterozygote alleles in the allele difference tract in the deletion interval are consistent with a post zygotic origin of the gonadal mosaicism and inconsistent with segUPD related correction