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?

Down syndrome is a genetic disorder in which an individual has three copies of chromosome 21, instead of two. From birth, people with Down syndrome experience physical and intellectual delays ...

Study finds mosaicism in Down syndrome reduces Alzheimer's risk, providing new insights into genetic influences on cognitive ...

A century after Down syndrome was first described ... with regions on the long q arm of human chromosome 21. Using some genetic tricks, scientists have induced translocations involving these ...

BRUNSWICK COUNTY, NC (WWAY) — Many people are unfamiliar with a disorder called 22q11.2 Deletion Syndrome or 22q. Which is ...

As medical research advances, genetic testing is becoming an important tool, giving us insight into disease risk, especially for conditions such as Down syndrome. Down syndrome is a genetic disorder ...

The proportion of babies born with a congenital heart abnormality increased by 16% after the first year of the pandemic, ...

including neural tube defects and genetic conditions such as Down syndrome. In contrast to other medical screening tests, such as blood pressure screening or testing for anemia, genetic testing in ...

To support our research on how to achieve this, we spoke with the following experts: Down syndrome is a genetic disorder that occurs when a person has an extra copy of chromosome 21. Typically ...

have all 10 fingers and 10 toes? And, most important: is the baby healthy? Genetic disorders—Down Syndrome, Trisomy 18 and others—were often a surprise in the delivery room. We may still ...

Down syndrome is not a disease but a chromosomal condition, said Chief Minister Murad Ali Shah and stressed the importance of dispelling misconceptions and urged a focus on the incredible ...

With March 21 marking World Down Syndrome Day, experts say Japan lacks sufficient medical institutions that offer specialized medical care to people with the genetic disorder after they reach ...