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 ...

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 ...