In these cases, Down syndrome is caused by a translocation of chromosomes 15 and 21 (Figure 3), in which the long arms of two acrocentric chromosomes are translocated to produce a single long ...

Scientists at the Broad Institute of MIT and Harvard, Harvard Medical School, and McLean Hospital have discovered a ...

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?

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 ...

People with Down's syndrome have a characteristic appearance and may have differing levels of learning disability. Chromosome mutations can also occur in plants. In many crop plants, for example ...

Scientists at the Broad Institute of MIT and Harvard, Harvard Medical School, and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause ...

HHMI researchers identify a rare genetic mutation that tamps down immune response to influenza ... and only a few would end up hospitalized with an acute respiratory distress syndrome,” says ...

"I just wish someone had told me this was a possibility." Kara Maxwell distinctly remembers the moment she heard those words ...

Rett syndrome is a rare developmental disorder, most often due to a mutation in the MECP2 gene on the X chromosome, but it’s not usually inherited. Advances in genetics have launched a new era ...