ALLMedicine™ 22q11.2 Deletion Syndrome Center

Jun 20th, 2022 - Dysconnectivity has been consistently proposed as a major key mechanism in psychosis. Indeed, disruptions in large-scale structural and functional brain networks have been associated with psychotic symptoms. However, brain activity is largely cons...

Jun 12th, 2022 - Noonan syndrome (NS) is caused by pathogenic variants in genes involved in the RAS/MAPK pathway. On the other hand, 22q11.2 Deletion Syndrome (22q11.2DS) is caused by heterozygous microdeletion on chromosome 22q11.2. The clinical characteristics o...

Jun 10th, 2022 - This case report explores clinical treatment efficacy in a Cantonese-speaking child with 22q11.2 Deletion Syndrome where diagnosis and management of velopharyngeal dysfunction can be considered late. All treatment sessions were undertaken via tele...

May 17th, 2022 - Velopharyngeal dysfunction (VPD) associated with 22q11.2 deletion syndrome (22q11.2DS) has a complex etiology. This study had 3 aims: (1) assess differences in velopharyngeal and levator muscle configuration during rest versus sustained speech pro...

May 3rd, 2022 - Crossed pulmonary arteries (CPAs) represent an uncommon anatomic variant, usually associated with some specific syndromes and conotruncal defects. This finding has been described in 22q11.2 Deletion Syndrome (22q11.2DS). We evaluated the correlati...

Mar 23rd, 2016 - 22q11.2 Deletion Syndrome is the most common for microdeletion syndrome. The incidence is about 1:4000 of live birth. Clinical features in this syndrome are vary which consist of conotruncal cardiac anomalies, developmental disabilities, palatal a...

Aug 10th, 2015 - The goal of this study is to collect preliminary data on the efficacy of a cognitive remediation program in improving the neurocognitive deficits in children with chromosome 22q11.2 deletion syndrome (22q11DS). This study involves a two part appro...

Oct 14th, 2020 - NEW YORK (Reuters Health) - In 22q11.2 deletion syndrome, a common genetic cause of schizophrenia, abnormalities in calcium-channel signaling resulting from the loss of the gene DGCR8 appear to underlie the neuronal defects, researchers report. "I...

Oct 14th, 2020 - NEW YORK (Reuters Health) - In 22q11.2 deletion syndrome, a common genetic cause of schizophrenia, abnormalities in calcium-channel signaling resulting from the loss of the gene DGCR8 appear to underlie the neuronal defects, researchers report. "I...

Oct 30th, 2017 - NIPT SCREENING FOR TWIN ZYGOSITY AND GENETIC RISK FACTORS The Natera® Panorama® non-invasive prenatal test (NIPT) now screens twin pregnancies for zygosity and chromosomal abnormalities. Natera says that Panorama is the first NIPT that can determi.

Jul 18th, 2016 - I'm Donna McDonald-McGinn, a clinical professor of pediatrics at the Perelman School of Medicine at the University of Pennsylvania. I'm also director of the 22q and You Center, chief of the Section of Genetic Counseling, and associate director of ...

Apr 29th, 2016 - Chromosomal deletion at 22q11. 2 may increase the risk of Parkinson’s disease, particularly early-onset Parkinson’s disease, according to research published online ahead of print March 23 in the Lancet Neurology.