More than half of all men with Klinefelter syndrome (KS) are unaware that they have the condition. Among those who do receive a diagnosis, only about half get the treatment they need. Now, a Danish ...

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 ...

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 ...