Spina bifida is the most common structural disorder of the human nervous system. The causes are largely unknown, but a new study points to a link involving a chromosomal microdeletion -- and also ...

You might know that some prenatal tests screen for Down syndrome and other chromosomal disorders, but you may not have heard of microdeletions. This type of chromosomal disorder is more common than ...

Robertsonian chromosomes are large chromosomes that form when the long arm of a chromosome breaks and fuses with another chromosome. They are the most common type of chromosome rearrangement in humans ...

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 ...

Co-authors on a paper in the journal Science reporting a link between a chromosomal microdeletion and spina bifida include (from left) Joseph Gleeson and Keng Ioi “Harry” Vong, both of the UC San ...