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 at Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) have identified a mechanism that protects the female brain from genetic diseases. Although one of the two X chromosomes is ...

PLYMOUTH MEETING, Pa., Dec. 5, 2023 /PRNewswire/ -- Harmony Biosciences Holdings, Inc. ("Harmony" or the "Company") (Nasdaq: HRMY), a pharmaceutical company dedicated to developing and commercializing ...

Researchers have found that mitochondrial dysfunction in the blood-brain barrier (BBB) may lead to neuropsychiatric disease in some patients with DiGeorge syndrome. Changes in brain connectivity ...

A recent study led by UC Davis Health researchers provides new insights into the molecular changes linked to the rare genetic condition 22q11.2 deletion syndrome, or 22q. It found unique biomarkers ...

DiGeorge syndrome, a 22q11.2 deletion syndrome, is caused when a small portion of chromosome 22 is missing. The condition can occur in individuals born from a parent with the dominant contiguous gene ...

SALT LAKE CITY, April 16, 2024 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc., (NASDAQ: MYGN), a leader in genetic testing and precision medicine, today announced that Prenatal Diagnosis has published a ...

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 ...

Down syndrome is an easily recognized, well-known genetic disorder. But there is another genetic disorder that even more babies are born with and it is rarely talked about. It is called 22q11.2 ...

DiGeorge syndrome, a 22q11.2 deletion syndrome, is caused when a small portion of chromosome 22 is missing. The condition can occur in individuals born from a parent with the dominant contiguous gene ...