The first child in history has successfully been treated with a new genetic therapy for an ultra-rare developmental defect ...

A mother who was puzzled that her newborn looked nothing like her asked doctors to investigate, and was stunned when he was diagnosed with a rare chromosome syndrome. As Hannah Doyle, 36, cradled baby ...

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 ...

Tatiana Schlossberg, the youngest granddaughter of President John F. Kennedy, recently revealed she was diagnosed with ...

Research on understanding the effect of extra chromosomes for conditions like Down syndrome typically involves examining what genes play a role in the symptoms of these conditions. However, ...

Mosaic Down syndrome is a rare form of Down syndrome. People with mosaic Down syndrome only show extra chromosomes in some cells, as opposed to all their cells. Human DNA typically contains 23 pairs ...

A hallmark of cancerous cells is an abnormal number of chromosomes or chromosome arms, known as aneuploidy. While aneuploidy ...

For children with Down syndrome (DS) or other genetic syndromes (OS), adenotonsillectomy seems to be safe, with a low rate of ...