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 ...

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 ...

Ideograms and partial karyotypes are shown. For the deletions, the arrows indicate a) the deletion of chromosome 15q11-13 associated with Prader-Willi and Angelman syndromes, and b) the deletion of ...

Researchers at the Francis Crick Institute studying male mice engineered with different Y chromosome deletions have uncovered which genes on the mouse Y chromosome regulate the development of sperm ...

Response to imatinib mesylate in patients with the FIP1L1-PDGFR-alpha positive hypereosinophilic syndrome: Update of a multicenter prospective study and guidelines for eosinophilia diagnosis ...

A new study by a US research consortium has discovered that a small segment of chromosome 16 is either missing or duplicated in about 1 per cent of people with an autism spectrum disorder (ASD). What ...