Please provide your email address to receive an email when new articles are posted on . Patients with certain conotruncal cardiac defects should be screened in the prenatal/neonatal period for ...

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 ...

Williams–Beuren syndrome (also known as Williams' syndrome; Online Mendelian Inheritance in Man [OMIM] number, 194050), a multisystem disorder, is caused by deletion of the Williams–Beuren syndrome ...

Purpose: Terminal deletions of chromosome 4q are commonly associated with cardiovascular malformations (CVMs). The dHAND gene (HAND2, heart and neural crest derivative express 2), a basic ...

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 ...

A content creator who suffers from a genetic disorder known as 22q syndrome has been flooded with well-wishes after being hospitalized. Justin Gigliotti from Boston—who goes by the name "Justin G" on ...

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 ...

A mother who was puzzled that her newborn looked nothing like her asked doctors to investigate, and was stunned when he was diagnosed with a rare chromosome syndrome. As Hannah Doyle, 36, cradled baby ...

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 ...

November 30, 2011 (Montreal, Quebec) — Partial or complete deletion of a specific gene, the MBD5 gene, on a specific region of chromosome 2 has been identified in every single individual affected by a ...