She had to fight for recognition after a male colleague took credit for her work in identifying an extra chromosome as the ...

In the largest genetic analysis of polycystic ovary syndrome to date, scientists have identified new variants linked to the ...

Three copies of chromosome 21 cause Down syndrome (DS), and roughly half of children born each year in the United States with ...

Explore trisomy 13 syndrome in this guide—learn about its meaning, causes, symptoms, and the available treatment options to ...

Chromosome 6p25 deletion syndrome is a rare but significant genetic disorder that arises from a deletion affecting the terminal region of the short arm of chromosome 6. This region encompasses several ...

Down syndrome affects around one in 640 children born in the US every year, and is the most common genetic cause of ...

Researchers led by UC Davis Health scientist Sanchita Bhatnagar have developed a promising gene therapy that could treat Rett syndrome. The therapy works on reactivating healthy but silent genes ...

Researchers at Memorial Sloan Kettering Cancer Center (MSK) have developed some of the first robust laboratory models of a ...

Certain rare genetic disorders may cause a child to develop obesity. Health experts may refer to these conditions as syndromic childhood obesity. They may affect a child’s metabolism or cause them to ...