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22q11 Deletion Syndrome - Crossref

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Last Updated: 27 October 2022

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Screening Method for 22q11 Deletion Syndrome Involving the Use of TaqMan qPCR for TBX1 in Patients with Conotruncal Congenital Heart Disease

A phenotypic spectrum that includes DiGeorge syndrome and velocardiomyocardiaemic syndrome is present in 22q11. 2 deletion syndrome. This research sought to describe a screening procedure for Conotruncal Congenital Heart Disease patients with 22q11. 2 deletion syndrome, using qPCR to determine the copy number of the TBX1 gene in a single DNA sample. One patient with truncus arteriosus CCHD was found to have 22q11. 2 deletion syndrome. In CCHD patients, we recommend this strategy as a potential newborn screening technique for 22q11. 2 deletion syndrome.

Source link: https://doi.org/10.3390/cardiogenetics12030024


Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH

We describe an infant with a rare combination of 22q11 deletion syndrome and 14q terminal deletion syndrome. The proband had clinical signs that were consistent with the diagnosis of 22q11 deletion syndrome: microcephaly, micrognathia, stymies, hypertrophy, short palpebral fissures, square nasal tip, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but not asymptomatic cell-mediated immunodeficiency typical for the condition. However, both the proband and his mother had mild signs that were typical for patients with the referred terminal 14q deletion syndrome.

Source link: https://doi.org/10.1159/000335334


De novo Unbalanced 1;22 Translocation with 22q11 Deletion Syndrome

This paper describes a newborn girl with some of the typical signs of DiGeorge syndrome/velocardiofacial syndrome, including hypocalcemia, atrial septal abnormality, and aortic stenosis. A deletion in 22q11. 1q11. 2 ranged from the cat eye syndrome region to the most commonly deleted region in DGS/VCFS patients, according to MLPA. The 22q11 deletion occurred in the der, according to a FISH report. This is the second case involving chromosome 1 and the first one involving chromosome 1, as well as the first one with breakpoints in 1p36 and 22q11. 2. This case also highlights the importance of combining diagnostic techniques to help diagnose a particular genetic abnormality.

Source link: https://doi.org/10.1159/000497173


Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

The supernumerary cat eye syndrome chromosome is dicentric, with two copies of 22pteru2192q11. 2. The more distal duplication breakpoint interval for CRKL and D22S112, which are similar to the common distal deletion interval for the 22q11 deletion syndrome, is more distal. We have therefore divided CES chromosomes into two classes based on the location of the two breakpoints that are used to produce them. Both breakpoints are located within the proximal interval, with the smaller version I CES chromosomes being symmetrical. The larger type II CES chromosomes are either symmetrical, with one breakpoint located in each of the two intervals, or symmetrical, with both breakpoints located in the distal interval. Since the phenotype associated with the larger duplication does not appear to be more significant than that of the smaller duplication, the determining of the type of CES chromosome does not appear to have prognostic value.

Source link: https://doi.org/10.1159/000015035


Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome

The 22q11 deletion syndrome, the result of a 1. 5- to 3-megabase deletion of human chromosome 22, has dramatically raised the risk of u201cdiseases of cortical communicationu201d that occur during growth, including schizophrenia and autism, is the product of a genetic mutation. In a mouse model of 22q11DS specifically compromises neurogenesis and subsequent differentiation in the cerebral cortex, we found that reduced dosage of the genes deleted in the 1. 5-megabase 22q11 minimally important deleted region of the cerebral cortex. Tbx1 or Prodh deletion does not injure basal progenitors. As a result, decreased 22q11 gene supply disrupts cortical neurogenesis and interneuron migration.

Source link: https://doi.org/10.1073/pnas.0905696106


Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs

Abstract Background T lymphopenia infants with severe mixed immunodeficiency (SCD) disorders and in a subgroup of infants with 22q11 deletion syndrome are identified by population-based neonatal screening using T-cell receptor excision circles. Compared to healthy controls, the 22Q11Low group had lower numbers of nau00efve T-helper cells, naefve T-regulatory cells, nau00efve cytotoxic T cells, nau00efve cytotoxic T cells, nau00efve cytotoxic T cells, na00efve cytotoxic T cells, na For nau00efve T-helper cells, a trend toward increased clonality was observed, with skewed V-gene use for nau00efve T-helper cells, shorter RTL, and a trend toward higher clonality. In both the 22q11Low and 22q11Normal group and the HC group, there were greater numbers of nave B cells and lower quantities of memory B cells, as well as switched memory B cells.

Source link: https://doi.org/10.1007/s10875-021-01201-5


Synaptic Plasticity Dysfunctions in the Pathophysiology of 22q11 Deletion Syndrome: Is There a Role for Astrocytes?

The 22q11 deletion syndrome is the most common microdeletion disorder in humans, and it causes a high risk of experiencing psychiatric disorders. Often, synaptic shifts in patients with cognitive dysfunction are due to structural and functional abnormalities, resulting in cognitive deficits, so synaptic plasticity plays a significant role in the syndrome's pathophysiology.

Source link: https://doi.org/10.3390/ijms23084412


Deficits in microRNA-mediated Cxcr4/Cxcl12 signaling in neurodevelopmental deficits in a 22q11 deletion syndrome mouse model

Here we show that a 22q11DS mouse model lacks in the growth of interneurons and hippocampal dentate gyrus, and that DiGeorge syndrome critical region gene 8, a microprocessor of microRNA and one of the genes in 22q11, explains these neurodevelopmental anomalies. Given the increased risk of 22q11DS in schizophrenia, the overall study shows that CXCR4/CXCL12 signaling may function as a common downstream mediator in schizophrenia pathophysiology.

Source link: https://doi.org/10.1073/pnas.1312661110


Evidence That the Association Between Hypernasality and 22q11 Deletion Syndrome Still Goes Undetected: A Case Study

This paper discusses the need for increasing understanding that hypernasality, velopharyngeal insufficiency, and a number of other anomalies may be related to 22q11 deletion syndrome syndrome, which can be related to the common etiology of 22q11 deletion syndrome. Each health care specialist treated the child based on the individual's narrow view of the discipline, lacking the child's behavioural pathology, which has no explanation. It was not until the diagnosis of 22q11 deletion syndrome was confirmed that appropriate, coordinated treatment of the condition was realized.

Source link: https://doi.org/10.1044/1058-0360.0903.197


Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome

Impaired PPI is associated with several mental disorders, including those that occur in 22q11DS, and in children with 22q11DS, a decrease in PPI was found. Here, we have mapped PPI deficits in a panel of mouse mutants with deletions that partially match Df1 and have established a PPI critical region encompassing four genes. PPI deficiencies in Df1/+ mice, according to Tbx1 and Gnb1l, are attributed to haploinsufficiency of two genes, Tbx1 and Gnb1l. Tbx1 haploinsufficiency in psychiatric disease is boosted by the finding of a family in which the phenotypic characteristics of 22q11DS, as well as psychiatric disorders, segregate with an inactivating mutation of TBX1. In the wider population, Tbx1 and Gnb1l are strong candidates for psychiatric disease in 22q11DS patients and candidate susceptibility genes for psychiatric disease.

Source link: https://doi.org/10.1073/pnas.0600206103

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions