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

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 ...

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.

The clinical name for Down syndrome is trisomy 21, a condition in which a person is born with an extra chromosome, causing mild to moderate cognitive disability, developmental delays and physical ...