Researchers identified biallelic variants in RNU2-2 as the cause of a recessive neurodevelopmental disorder marked by ...

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 ...

22q11.2 Deletion Syndrome (22q11.2 DS) is the most common chromosomal microdeletion disorder, arising chiefly from de novo non-homologous meiotic recombination events. This condition presents with a ...

A local family is bringing awareness to a new and ultra-rare disorder affecting their young son. It's called CHAMP1. It's a ...

Chromosomes are thread-like structures located inside the nucleus of animal and plant cells. Each chromosome is made of protein and a single molecule of deoxyribonucleic acid (DNA). Passed from ...

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 ...