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 ...

A mother says her “gut instinct” told her something was wrong with her baby boy immediately after she gave birth — and doctors soon delivered a devastating diagnosis. Hannah Doyle’s son, Zander, was ...

Brain MRI studies have shown volumetric changes in multiple cortical and subcortical regions in individuals with 22q11DS that could be related to both cognition and ...

Donna McDonald-McGinn, M.S., CGC, associate director of Clinical Genetics and program director of the "22q and You" Center at The Children's Hospital of Philadelphia, received the Angelo DiGeorge ...

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 ...

Purpose: The advent of molecular cytogenetic technologies has altered the means by which new microdeletion syndromes are identified. Whereas the cytogenetic basis of microdeletion syndromes has ...

Scientists have identified a gene that appears to play a significant role in raising a person's risk of having more severe subtypes of autism that co-occur with other genetic diseases, such as the ...

STATEN ISLAND, N.Y. -- When Ava Desiderato was born, she didn't cry. Moments later, she was airlifted to Philadelphia for emergency heart surgery. Nearly a decade later, she is a singer, dancer, ...

The brain activity patterns during sleep shed light on the neurobiology behind a genetic condition called 22q11.2 Deletion Syndrome (22q11.2DS) and could be used as a biomarker to detect the onset of ...

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 ...