24, 2024 — Researchers have identified a gene that causes heart defects in Down syndrome, a condition that results from an additional copy of chromosome 21. Reducing the overactivity of this ...

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?

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?

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.