A Phoenix police officer and his wife are asking for help as their 2-year-old son prepares for open heart surgery.

The family of a two year old girl with a condition so rare she is the only person in the world diagnosed with it have said ...

A mother says her “gut instinct” told her something was wrong with her baby boy immediately after she gave birth — and doctors soon delivered a devastating diagnosis. Hannah Doyle’s son, Zander, was ...

When genes are deleted on a particular section of chromosome 11, the result is an aggressive form of the childhood cancer neuroblastoma. A new study suggests that detecting this genetic deletion ...

Researchers have revealed a novel association between chromosome 18q deletion syndrome and late-onset combined immunodeficiency (LOCID). Their finding challenges the previously held notion that 18q ...

In a recent study posted to the medRxiv* preprint server, a group of researchers identified large deletions in individuals with unexplained hyperinsulinism (HI), thereby elucidating the potential ...

Translocations, in genetics, happen when chromosomes break and the pieces attach to other chromosomes. This mixing of genetic material has important results. The resultant chromosomes are lacking in ...