Chromosomal abnormalities can include two basic categories: numerical or structural. A structural abnormality can include an alteration to the structure of the chromosome, as the name suggests.

Chromosomal copy-number variations (CNVs) are a class of genetic variants highly implicated in the aetiology of neurodevelopmental disorders, including intellectual disabilities (ID), schizophrenia ...

The cells in our body are constantly fighting off the threat of cancer by repairing damaged DNA. In a new study, scientists investigate the structure of an elusive protein complex that plays a key ...

It wasn’t easy for Mandy Barnes as her daughter, Sam, struggled to learn to walk. But when Sam — who is now 3 years old and was born with Down syndrome — finally learned to totter around the house a ...

Rare genetic disorders affect more than 300 million people worldwide, with children making up 70% of those impacted, according to EURORDIS. These conditions often go undiagnosed for years due to ...

It is known that newborns with a variety of chromosomal disorders are subnormal in weight for gestational age at birth but their growth disturbance has received little attention, major consideration ...