Nature

1p36 Deletion Syndrome and Associated Phenotypes

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 ...
Nature

22q11.2 Deletion Syndrome and Associated Disorders

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 ...
News Medical

Low birth weight, preterm birth increase schizophrenia risk in individuals with 22q11.2 deletion syndrome

Low birth weight and preterm birth appear to increase the risk of schizophrenia among individuals with a genetic condition called the 22q11.2 deletion syndrome, a new study from the Centre for ...
Business Wire

Landmark SMART Study Demonstrates High Accuracy of Natera’s Panorama® NIPT for 22q11.2 Deletion Screening

When discussing the value of screening for 22q, the authors concluded that, “the PPV of cfDNA for 22q11.2DS is higher and the false positive rate is lower than that associated with other accepted ...
Seeking Alpha

HARMONY BIOSCIENCES TO PRESENT RESULTS FROM BEHAVIORAL STUDY IN 22Q11.2 DELETION SYNDROME AT AMERICAN COLLEGE OF NEUROPSYCHOPHARMACOLOGY ...

PLYMOUTH MEETING, Pa., Dec. 5, 2023 /PRNewswire/ -- Harmony Biosciences Holdings, Inc. (HRMY), a pharmaceutical company dedicated to developing and commercializing innovative therapies for patients ...
EurekAlert!

Uncovering late-onset combined immune deficiency in chromosome 18q deletion syndrome

Tokyo Medical and Dental University (TMDU) researchers have discovered that patients with 18q deletion syndrome can experience both cellular and humoral immunodeficiency Tokyo, Japan – Chromosome 18q ...