For Ashley Zambelli, a surprise diagnosis allowed her to have an even more special bond with her children. The Michigan-based mom, 23, recently found out she has Mosaic Down syndrome, a condition in ...

In most people, every cell in their body contains the same genetic information. However, sometimes people can have two or more genetically different sets of cells. This usually happens during fetal ...

This month, I’d like to discuss the options that are available when an individual has clinical features of any of the three types of NF but genetic testing is negative. Next-generation sequencing (NGS ...

Nearly half of all babies born with Down syndrome face congenital heart defects, often involving serious malformations that ...