Phenotypic spectrum in uniparental disomy: Low incidence or lack of study?

Conclusions: The role of UPD in human genetic disorders needs to be studied by involving larger cohorts of individuals with birth defects as well as normal population. The genetic conditions were scrutinized in terms of inheritance patterns; majority of these were autosomal recessive indicating the role of UPD as an underlying mechanism.

Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Arpan D BhattThomas LiehrSonal R Bakshi Source Type: research