A study in youth who are missing part of a chromosome is further implicating a suspect gene in schizophrenia. Youth with this genetic chromosomal deletion syndrome already had a nearly 30-fold ...

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 ...

To help children like Adley, you can donate to Arkansas Children’s Northwest’s “Champion for Children Giveathon” on the ...

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 ...

Researchers are closer to solving the puzzle of a complex neurological condition called 15q13.3 microdeletion syndrome. Individuals with this condition are missing a small piece of chromosome 15 that ...

Researchers are closer to solving the puzzle of a complex neurological condition called 15q13.3 microdeletion syndrome. Individuals with this condition are missing a small piece of chromosome 15 that ...

The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2 ...

Hayley Moulding receives funding from the Medical Research Council and is a PhD student at the MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University. Hayley works for The ECHO ...

Study establishes for the first time that defective DNA repair may be the major driver of several clinical features associated with a subset of patients with 22q11.2 distal deletion syndrome ...

Maria Niarchou receives funding from Wellcome Trust. This project received funding from the Medical Research Council, the Wellcome Trust and the Waterloo Foundation. The investigators would like to ...