at the elastin locus in a developmental disorder, Williams syndrome.
All patients had been diagnosed with WBS shortly after birth and fluorescent in situ hybridization (with a biotinylated Oncor WSCR probe) had proven the disease by showing the hemizygosity
at the elastin locus at 7q 11-23.
Confirmation of this syndrome can be made by detecting elastin hemizygosity
by flourescence in situ hybridisation (FISH).
of certain markers also usually leads to severe developmental diseases.
Tight clustering and hemizygosity
of apomixis-linked molecular markers in Pennisetum squamulatum implies genetic control of apospory by a divergent locus that may have no allelic form in sexual genotypes.
also has an impact under selective sweeps insofar as recessive advantageous mutations are fixed more rapidly than their autosomal counterparts, which means that, under selective sweeps, we expect to see a reduction of variation at loci with equivalent recombination rates on the X relative to autosomes.
Because of hemizygosity
in males, we directly phased the maternal haplotypes of the DMD region.