Medically reviewed by Brigid Dwyer, MD Mosaic Down syndrome is a variant of Down syndrome. Down syndrome is a congenital ...

The brain of a US woman with Down syndrome showed the classic signs of Alzheimer’s disease upon her death, yet she remained ...

Sep. 25, 2024 — People with Down syndrome face a higher risk of developing leukemia. Now researchers explain why, by identifying specific changes in blood cells of people with Down ...

Transcriptomic analyses confirmed the researchers’ expectation that these interferon receptors are expressed at levels roughly 1.5 times higher in fibroblast cell lines derived from people with Down ...

Gene editing techniques may eventually allow trisomy to be treated at the cellular level, according to an in vitro proof-of-concept study. Down syndrome is caused by the presence of a third copy ...

Decades of tests had shown that she had both Down syndrome and an intermediate level of Alzheimer's. Physical examinations ...

In the mid-1950s Marthe Gautier, a young French doctor and cytogenetics researcher, led a cutting-edge experiment to investigate the cause of Down syndrome. She painstakingly cultured cells in a ...

Aneuploidy occurs when there are either too many or too few chromosomes in cells. Down syndrome, for example, is caused by a trisomy—three copies instead of two—of chromosome 21. Amniocentesis and ...

Mucopolysaccharidosis is a family of diseases caused by an enzyme deficiency that leads to the accumulation of glycosaminoglycans (GAGs) within the lysosomes of cells. In one particular variant of ...

Gene editing techniques may eventually allow trisomy to be treated at the cellular level, according to an in vitro proof-of-concept study.