By doing so, this technique enables the identification of chromosomal copy number alterations, such as gains and losses of entire chromosomes or targeted loci as well as of the localization of loss of heterozygosity (ie, hemizygosity
) and homozygous deletions.
In 3 samples we have analyzed, and a weak D sample, we have clearly shown homo- and hemizygosity
for RHD, which was not in concordance with predicted phenotype.
Atkinson et al., "Hemizygosity
at the elastin locus in a developmental disorder, Williams syndrome," Nature Genetics, vol.
Flodman et al., "A case of autism with an interstitial deletion on 4q leading to hemizygosity
for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R," BMC Medical Genetics, vol.
Aoki et al., "Functional hemizygosity
of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain," Human Molecular Genetics, vol.
Although sequencing analysis cannot exclude a large heterozygous deletion in the CYP11B2 gene in trans to c.1398+2T>A (i.e., hemizygosity
), homozygosity of c.1398+2T>A is most likely.
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.