One gene causes one trait or a specific illness. When doctors use genetics, it’s usually to try to identify a disease-causing gene to help guide diagnosis and treatment. But for most health conditions ...

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 Peutz-Jeghers syndrome (PJS) is an autosomal-dominant hamartomatous polyposis syndrome characterized by mucocutaneous pigmentation, gastrointestinal polyps and the increased risk of multiple ...

I’m a mother, and I’m a caregiver from central New York. Every day, I care for my daughter, who has 1p36 chromosome deletion syndrome, through New York’s Consumer-Directed Personal Assistance Program.

Jacobsen syndrome, also known as 11q terminal deletion syndrome or 11q syndrome, is a rare genetic disorder caused by a partial deletion of the long (q) arm of chromosome 11. The syndrome was first ...

Researchers at Baylor College of Medicine, the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, Baylor Genetics and collaborating institutions provided a ...

Faculty of Medicine, SUMPh Nicolae Testemitanu, Chisinau, Moldova. DiGeorge syndrome (DGS), also known as velo-cardio-facial syndrome, is a genetic disorder resulting from a microdeletion on ...

ABSTRACT: Background: DiGeorge syndrome (also known as velo-cardio-facial syndrome) is a rare multisystem genetic disorder occurring in approximately 1 in 4000 to 1 in 6000 live births [1]. Although ...

Using a new analytic method (“unique non-overlapping region” (UNOR) analysis), we characterized the genotypes and phenotypes of a large cohort of individuals diagnosed with chromosome 9p deletion ...