Medically reviewed by Brigid Dwyer, MD Mosaic Down syndrome is a variant of Down syndrome. Down syndrome is a congenital (present at birth) genetic condition that occurs when a person has three copies ...

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 ...

World Down Syndrome Day is right around the corner, and I invite you to join us in celebrating on March 21! This special day ...

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

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

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 ...

A Gen Z mom is going viral for sharing an important message after her baby was born with Down syndrome. Nicole Warner, from Texas, posted a clip on TikTok sharing the heart-warming realization about ...

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 ...