This work highlights the application of long-read sequencing and other imprinted regions outside of the PWS/AS critical region to resolve the molecular diagnosis and subtyping of PWS and AS without ...

Results from STR markers from 4p16-q13 indicate that this region was inherited biparentally, and UPD was not via maternal heterodisomy. Paternity testing, including analyses of 4 markers of autosomes ...

Heterodisomy is caused by non-segregation in stage I meiosis, and the affected individual inherits two homologous chromosomes from the same parent; isodisomy is caused by non-segregation in stage II ...

Those with maternal heterodisomy or h-UPD lack crossover events in maternal meiosis I and are not at risk of having a second genetic condition related to recessive gene mutations on chromosome 15.

Angelman syndrome (AS) is a neurodevelopmental disorder arising from loss-of-function mutations in the maternally inherited copy of the UBE3A gene, ...

Article citations More>> Nicholls, R.D., Knoll, J.H., Butler, M.G., et al. (1989) Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature, 342, 281-285. doi ...

Epigenetic regulation is important for stable maintenance of cell identity. For continued function of organs and tissues, illegitimate changes in cell identity must be avoided. Failure to do so can ...

Cytogenetic studies of the parents of a girl with the DiGeorge (or velocardiofacial) syndrome, who carried a deletion at 22q11.2, revealed an unexpected rearrangement of both 22q11.2 regions in the ...