1p36 deletion syndrome is one of the most common subtelomeric microdeletion disorders, occurring in approximately 1 in 5,000 to 10,000 live births. This chromosomal abnormality results in a broad ...

DiGeorge syndrome is a chromosomal disorder that typically affects the 22nd chromosome. This condition can affect many organ systems and cause various medical issues, ranging from a heart defect to ...

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 ...

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 ...