Rare Chromosome Awareness Day, celebrated in June, is an opportunity to increase public knowledge about rare chromosome and gene disorders. These conditions can lead to various physical, developmental ...

Translocations, in genetics, happen when chromosomes break and the pieces attach to other chromosomes. This mixing of genetic material has important results. The resultant chromosomes are lacking in ...

“I was looking at individuals with birth defects, intellectual impairment and things like that,” said Dr. Katy Phelan. Genetic disorders are caused by an abnormality or mutation in one or more genes.

People with an additional X or Y chromosome—a genetic condition known as supernumerary sex chromosome aneuploidy—have an increased risk of developing blood clots known as venous thromboembolism (VTE), ...