It took more than 50 years for Marthe Gautier to set the record straight about her discovery of the genetic cause of Down ...

Down syndrome occurs in about 1 out of every 1,000 ... placenta to examine your baby’s chromosomes. The placenta is an organ that forms in the womb during pregnancy and contains the same genetic ...

In one particular variant of this disease known as mucopolysaccharidosis I (MPS I), a deficiency of the enzyme alpha-L-iduronidase causes a build up of GAGs in tissues and organs, which in turn ...

After his best friend from high school had a daughter with Down syndrome, immunologist Dusan Bogunovic of the Icahn School of Medicine at Mount Sinai in New York pored over decades of research to ...

A century after Down syndrome was first described, scientists discovered that the root cause of this disorder is a condition called trisomy 21. What strides in research have been made since then?