R. Douglas Wilson, Journal of Obstetrics and Gynaecology Canada, Available online 7 June 2016, ISSN 1701-2163, doi:10.1016/j.jogc.2016.04.091.
Most importantly this update is intended to help readers know when they need assistance from a reproductive geneticist for making decisions and providing choices.
TNR disorders are due to genomic instability/expansion. The effects of the TNR expansion are varied with loss of gene expression, a gain of gene function, or abnormal RNA processing. TNR disorders include conditions such as fragile X syndrome, myotonic dystrophy, Huntington disease, spinal bulbar muscular atrophy, and Friedreich ataxia (as well as other inherited ataxias)
The New Genetic Inheritance: Mechanisms of Inheritance That Mendel Would Not Have Predicted With Sweet Peas