Translational 22q11.2

Condition:   Psychiatrists Intervention:   Genetic: Molecular analyses Sponsor:   Hôpital le Vinatier Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials

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AbstractThe 22q11.2 deletion has been identified as a risk factor for multiple neurodevelopmental disorders. Behavioral and cognitive impairments are common among carriers of the 22q11.2 deletion. Parvalbumin expressing (PV+) interneurons provide perisomatic inhibition of excitatory neuronal circuits through GABAA receptors, and a deficit of PV+ inhibitory circuits may underlie a multitude of the behavioral and functional deficits in the 22q11.2 deletion syndrome. We investigated putative deficits of PV+ inhibitory circuits and the associated molecular, morphological, and functional alterations in the prefrontal cortex (PF...
Source: Molecular Neurobiology - Category: Neurology Source Type: research
Publication date: October 2020Source: The Journal of Allergy and Clinical Immunology: In Practice, Volume 8, Issue 9Author(s): Emilia Cirillo, Maria Rosaria Prencipe, Giuliana Giardino, Roberta Romano, Giulia Scalia, Rita Genesio, Lucio Nitsch, Claudio Pignata
Source: The Journal of Allergy and Clinical Immunology: In Practice - Category: Allergy & Immunology Source Type: research
This study highlights the impact of the size of deleted regions, as they may affect the clinical picture of patients with 16p11.2 microdeletion syndrome. Reported cases indicates the key role of the interdisciplinary approach in 16p11.2 microdeletion syndrome diagnostics, as the care of patients with this deletion is based on regular health assessment and adjustment of the nervous system develo pment therapy
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Genome variation profiling by SNP array Homo sapiens Source Type: research
Phelan-McDermid syndrome (PMS, OMIM#606232), or 22q13 deletion syndrome, is a rare genetic disorder caused by deletion of the distal long arm of chromosome 22 with a variety of clinical features that display c...
Source: BMC Medical Genomics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research
The microdeletion of chromosome 13 has been rarely reported. Here, we report a 14-year old Asian female with a de novo microdeletion on 13q12.3.
Source: BMC Medical Genomics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research
To describe the prevalence of Y-chromosome deletions in patients with a sperm concentration of less than five million/ml. To also determine a new sperm threshold for Y-chromosome analysis in men with infertility.
Source: Urology - Category: Urology & Nephrology Authors: Source Type: research
Rationale: 15q11.2 microdeletion syndrome is a relatively rare chromosomal abnormality with incomplete penetrance and phenotypic variability. The reports on prenatal ultrasound abnormalities of fetus with 15q11.2 microdeletion are rare. Patient concerns: A 30-year-old woman was referred for genetic counseling and prenatal diagnosis at 19 weeks of gestation because of increased nuchal translucency in prenatal ultrasound findings and a history of spontaneous abortion. Diagnoses: The cytogenetic analysis showed the karyotype of the fetus was 46,XY, inv(4)(p15q31) and chromosomal microarray analysis detected a 0.512 Mb...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
We present a computational approach that connects patient phenotypes based on phenotypic co-occurence and uses genomic information related to the patient mutations to assign genes to the phenotypes, which are us ed to detect enriched functional systems. These phenotypes are clustered using network analysis to obtain functionally coherent phenotype clusters. We applied the approach to the DECIPHER database, containing phenotypic and genomic information for thousands of patients with heterogeneous rare disord ers and copy number variants. Validity was demonstrated through overlap with known diseases, co-mention within the bi...
Source: PLoS Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
A genetic study has identified neuronal abnormalities in the electrical activity of cortical cells derived from people with a rare genetic disorder called 22q11.2 deletion syndrome.
Source: National Institute of Mental Health - Category: Psychiatry Authors: Source Type: news
Findings show deficits in the electrical activity of cortical cells; possible targets for treatment for 22q11.2 deletion syndrome.
Source: National Institutes of Health (NIH) News Releases - Category: American Health Source Type: news
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