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

Every year, about 7.9 million infants (6% of worldwide births) are born with serious birth defects. With the causes of over 50% of birth defects unknown, how do we diagnose and prevent them?

A genetic screen can potentially diagnose more than 1,200 genetic disorders and chromosomal abnormalities. If you were a medical geneticist, how would you pick the best test for your patient?

Similarly, a fetus with Down Syndrome has three copies of chromosome 21, rather than two, but two copies of all of the other chromosomes. So if you look at a mix of fetal and maternal DNA together ...

Dec. 1, 2022 — Research on understanding the effect of extra chromosomes for conditions like Down syndrome typically involves examining what genes play a role in the symptoms of these conditions.

As he read through the literature, he began to notice overlaps between Down syndrome and more severe genetic disorders that stem from over-producing interferons—molecules that open the innate immune ...

Cells from buccal smears were positive for sex chromatin. Only 14 cells obtained from bone marrow could be subjected to chromosome analysis. Of these, 13 had 48, and 1 had 50 chromosomes.