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https://www.readbyqxmd.com/read/28627729/the-immune-deficiency-of-chromosome-22q11-2-deletion-syndrome
#1
Megan Morsheimer, Terri F Brown Whitehorn, Jennifer Heimall, Kathleen E Sullivan
The syndrome originally described by Dr. Angelo DiGeorge had immunodeficiency as a central component. When a 22q11.2 deletion was identified as the cause in the majority of patients with DiGeorge syndrome, the clinical features of 22q11.2 deletion syndrome became so expansive that the immunodeficiency became less prominent in our thinking about the syndrome. This review will focus on the immune system and the changes in our understanding over the past 50 years. Initially characterized as a pure defect in T cell development, we now appreciate that many of the clinical features related to the immunodeficiency are well downstream of the limitation imposed by a small thymus...
June 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28619254/22q11-2-deletion-syndrome-characterization-of-psychosis-spectrum-and-future-directions
#2
Petya D Radoeva
No abstract text is available yet for this article.
July 1, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28618053/association-of-aberrant-right-subclavian-artery-with-abnormal-karyotype-and-microarray-results
#3
Ran Svirsky, Adi Reches, Dana Brabbing-Goldstein, Anat Bar Shira, Yuval Yaron
OBJECTIVES: to evaluate the incidence of chromosomal aberration (both microscopic and sub-microscopic) in fetuses with an aberrant right subclavian artery (ARSA) detected by ultrasonographic anomaly scan. METHODS: The study included 62 pregnant women whose fetuses were diagnosed with ARSA who were referred for genetic counseling. Of these, 55 patients underwent amniocentesis and 7 declined invasive testing. All 55 amniocentesis samples were tested by standard G-banding and chromosomal microarray (CMA), except for 2 samples for which only karyotype and FISH for 22q11...
June 15, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28616926/-clinical-application-of-chromosomal-microarray-analysis-in-karyotyping-with-uncertain-genomic-rearrangement
#4
Ting Hu, Zhu Zhang, Jia-Min Wang, Hong-Qian Liu, Zhi-Ying Liu, He Wang, Shan-Ling Liu
OBJECTIVES: To apply chromosomal microarray analysis (CMA) in the diagnosis of karyotyping with uncertain genomic rearrangement. METHODS: We retrospectively reviewed 48 samples (34 samples of amniotic fluid, 14 samples of peripheral blood) of karyotype analyses with uncertain genomic rearrangement in patients admitted to our department from September 2014 to April 2016. The CMA results were compared with those of karyotyping. RESULTS: The 48 samples consisted of 13 samples with marker chromosomes, 19 samples with derivative chromosomes, and 16 samples with balanced translocation...
May 2017: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28605459/copy-number-variants-are-enriched-in-individuals-with-early-onset-obesity-and-highlight-novel-pathogenic-pathways
#5
Maria Pettersson, Heli Viljakainen, Petra Loid, Taina Mustila, Minna Pekkinen, Miriam Armenio, Johanna C Andersson-Assarsson, Outi Mäkitie, Anna Lindstrand
Context: Only a handful of genetic causes for childhood obesity have been identified to date. Copy number variants (CNVs) are known to contribute to obesity, both syndromic (15q11.2 deletions, Prader-Willi syndrome) and non-syndromic (16p11.2 deletions) obesity. Objective: To study the contribution of CNVs to early-onset obesity and evaluate the expression of candidate genes in subcutaneous adipose tissue. Design and Setting: A case-control study in a tertiary academic center...
June 12, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28604963/-phenotypic-and-genotypic-analysis-of-a-fetus-carrying-an-intermediate-22q11-2-deletion-encompassing-the-crkl-gene
#6
Shaobin Lin, Xiaohe Zheng, Heng Gu, Mingzhen Li
OBJECTIVE: To delineate the phenotypic characteristics of 22q11.2 deletion syndrome and the role of CRKL gene in the pathogenesis of cardiac abnormalities. METHODS: G-banded karyotyping, single nucleotide polymorphism (SNP) array and fluorescence in situ hybridization (FISH) were performed on a fetus with tetralogy of Fallot detected by ultrasound. Correlation between the genotype and phenotype was explored after precise mapping of the breakpoints on chromosome 22q11...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28604574/use-of-extracorporeal-membrane-oxygenation-and-mortality-in-pediatric-cardiac-surgery-patients-with-genetic-conditions-a-multicenter-analysis
#7
Jamie M Furlong-Dillard, Venugopal Amula, David K Bailly, Steven B Bleyl, Jacob Wilkes, Susan L Bratton
OBJECTIVE: Congenital heart disease is commonly a manifestation of genetic conditions. Surgery and/or extracorporeal membrane oxygenation were withheld in the past from some patients with genetic conditions. We hypothesized that surgical care of children with genetic conditions has increased over the last decade, but their cardiac extracorporeal membrane oxygenation use remains lower and mortality greater. DESIGN: Retrospective cohort study. SETTING: Patients admitted to the Pediatric Health Information System database 18 years old or younger with cardiac surgery during 2003-2014...
June 9, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28584888/autism-spectrum-disorder-neuropathology-and-animal-models
#8
REVIEW
Merina Varghese, Neha Keshav, Sarah Jacot-Descombes, Tahia Warda, Bridget Wicinski, Dara L Dickstein, Hala Harony-Nicolas, Silvia De Rubeis, Elodie Drapeau, Joseph D Buxbaum, Patrick R Hof
Autism spectrum disorder (ASD) has a major impact on the development and social integration of affected individuals and is the most heritable of psychiatric disorders. An increase in the incidence of ASD cases has prompted a surge in research efforts on the underlying neuropathologic processes. We present an overview of current findings in neuropathology studies of ASD using two investigational approaches, postmortem human brains and ASD animal models, and discuss the overlap, limitations, and significance of each...
June 5, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28582304/surgical-outcomes-for-speech-surgery-in-22q11-2-deletion-syndrome-the-dilemma-of-persistent-velopharyngeal-insufficiency-after-pharyngeal-flap-operation
#9
Ryan D Wagner, Erik M Wolfswinkel, Edward P Buchanan, David Y Khechoyan
INTRODUCTION: The majority of patients with 22q11.2 deletion syndrome suffer from velopharyngeal insufficiency (VPI). Patients with 22q11.2 deletion syndrome (22qDS) commonly present with a large central velopharyngeal gap in the setting of poor velar and pharyngeal wall motion. The posterior pharyngeal flap is considered the most effective technique to treat VPI in this complex patient group. This study aims to critically evaluate success rates of surgical management of VPI in 22qDS patients and discuss options for management of a failed posterior pharyngeal flap (PPF) with persistent VPI...
June 2, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28577347/neuroradiographic-findings-in-22q11-2-deletion-syndrome
#10
Lauren A Bohm, Tom C Zhou, Tyler J Mingo, Sarah L Dugan, Richard J Patterson, James D Sidman, Brianne B Roby
22q11.2 deletion syndrome (22q11.2DS) is a common genetic disorder with enormous phenotypic heterogeneity. Despite the established prevalence of developmental and neuropsychiatric issues in this syndrome, its neuroanatomical correlates are not as well understood. A retrospective chart review was performed on 111 patients diagnosed with 22q11.2DS. Of the 111 patients, 24 with genetically confirmed 22q11.2 deletion and brain MRI or MRA were included in this study. The most common indications for imaging were unexplained developmental delay (6/24), seizures of unknown etiology (5/24), and unilateral weakness (3/24)...
June 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28576520/clinical-characterization-of-novel-chromosome-22q13-microdeletions
#11
Jennifer F Ha, Ayesha Ahmad, Marci M Lesperance
INTRODUCTION: The advent of chromosome microarray analysis (CMA) for evaluation of patients with multiple congenital anomalies has made it possible to define chromosomal imbalances with greater precision and resolutions significantly smaller than possible by standard G-banded chromosome analysis. We describe two patients with novel chromosomal anomalies involving chromosome 22q13, a locus also associated with Phelan-McDermid syndrome (PMS). OBJECTIVE: We aim to characterize the novel phenotypic and genotypic findings of two patients with 22q13 microdeletions, distinct from PMS, comparing and contrasting with features of PMS...
April 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28574926/hyposmia-symptoms-of-rapid-eye-movement-sleep-behavior-disorder-and-parkinsonian-motor-signs-suggest-prodromal-neurodegeneration-in-22q11-deletion-syndrome
#12
Ellen Buckley, Azeem Siddique, Alisdair McNeill
The 22q11 deletion syndrome (22q11DS) is one of the most common genomic disorders in humans. There is an increased risk of Parkinson's disease (PD) in individuals with 22q11DS. The characteristic motor features of PD begin when more than 50% of dopaminergic neurons in the substantia nigra have degenerated. Before this, there is a prodromal period, of up to 20 years, in which nonmotor features such as hyposmia, autonomic dysfunction, rapid eye movement sleep behavior disorder, and subtle motor dysfunction can occur...
June 1, 2017: Neuroreport
https://www.readbyqxmd.com/read/28556830/adolescence-is-the-starting-point-of-sex-dichotomous-comt-genetic-effects
#13
S Sannino, M C Padula, F Managò, M Schaer, M Schneider, M Armando, E Scariati, F Sloan-Bena, M Mereu, M Pontillo, S Vicari, G Contarini, C Chiabrera, M Pagani, A Gozzi, S Eliez, F Papaleo
The catechol-o-methyltransferase (COMT) genetic variations produce pleiotropic behavioral/neuroanatomical effects. Some of these effects may vary among sexes. However, the developmental trajectories of COMT-by-sex interactions are unclear. Here we found that extreme COMT reduction, in both humans (22q11.2 deletion syndrome COMT Met) and mice (COMT-/-), was associated to cortical thinning only after puberty and only in females. Molecular biomarkers, such as tyrosine hydroxylase, Akt and neuronal/cellular counting, confirmed that COMT-by-sex divergent effects started to appear at the cortical level during puberty...
May 30, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28540525/identification-of-22q11-2-deletion-syndrome-via-newborn-screening-for-severe-combined-immunodeficiency
#14
Jessica C Barry, Terrence Blaine Crowley, Soma Jyonouchi, Jennifer Heimall, Elaine H Zackai, Kathleen E Sullivan, Donna M McDonald-McGinn
PURPOSE: Chromosome 22q11.2 deletion syndrome (22q11.2DS), the most common cause of DiGeorge syndrome, is quite variable. Neonatal diagnosis traditionally relies on recognition of classic features and cytogenetic testing, but many patients come to attention only following identification of later onset conditions, such as hypernasal speech due to palatal insufficiency and developmental and behavioral differences including speech delay, autism, and learning disabilities that would benefit from early interventions...
May 24, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28538174/schizophrenia-related-microdeletion-impairs-emotional-memory-through-microrna-dependent-disruption-of-thalamic-inputs-to-the-amygdala
#15
Tae-Yeon Eom, Ildar T Bayazitov, Kara Anderson, Jing Yu, Stanislav S Zakharenko
Individuals with 22q11.2 deletion syndrome (22q11DS) are at high risk of developing psychiatric diseases such as schizophrenia. Individuals with 22q11DS and schizophrenia are impaired in emotional memory, anticipating, recalling, and assigning a correct context to emotions. The neuronal circuits responsible for these emotional memory deficits are unknown. Here, we show that 22q11DS mouse models have disrupted synaptic transmission at thalamic inputs to the lateral amygdala (thalamo-LA projections). This synaptic deficit is caused by haploinsufficiency of the 22q11DS gene Dgcr8, which is involved in microRNA processing, and is mediated by the increased dopamine receptor Drd2 levels in the thalamus and by reduced probability of glutamate release from thalamic inputs...
May 23, 2017: Cell Reports
https://www.readbyqxmd.com/read/28536274/mapping-22q11-2-gene-dosage-effects-on-brain-morphometry
#16
Amy Lin, Christopher R K Ching, Ariana Vajdi, Daqiang Sun, Rachel K Jonas, Maria Jalbrzikowski, Leila Kushan-Wells, Laura Pacheco Hansen, Emma Krikorian, Boris Gutman, Deepika Dokoru, Gerhard Helleman, Paul M Thompson, Carrie E Bearden
Reciprocal chromosomal rearrangements at the 22q11.2 locus are associated with elevated risk of neurodevelopmental disorders. The 22q11.2 deletion confers the highest known genetic risk for schizophrenia, but a duplication in the same region is strongly associated with autism and is less common in schizophrenia cases than in the general population. Here we conducted the first study of 22q11.2 gene dosage effects on brain structure in a sample of 143 human subjects: 66 with 22q11.2 deletions (22q-del; 32 males), 21 with 22q11...
May 23, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28527096/childhood-predictors-of-young-adult-social-functioning-in-22q11-2-deletion-syndrome
#17
Kayla E Wagner, Wendy R Kates, Wanda Fremont, Kevin M Antshel
The primary objectives of the current prospective longitudinal study were to (a) describe social functioning outcomes and (b) identify childhood predictors of social functioning in young adults with 22q11.2 deletion syndrome (22q11.2DS). Childhood predictors of young adult social functioning were examined. Family environment and parental stress in adolescence were investigated as potential mediators between childhood variables and adult social functioning. Parent rated childhood internalizing symptoms significantly predicted young adult social functioning in 22q11...
May 19, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28525574/a-schizophrenia-related-deletion-leads-to-kcnq2-dependent-abnormal-dopaminergic-modulation-of-prefrontal-cortical-interneuron-activity
#18
Se Joon Choi, Jun Mukai, Mirna Kvajo, Bin Xu, Anastasia Diamantopoulou, Pothitos M Pitychoutis, Bin Gou, Joseph A Gogos, Hui Zhang
Altered prefrontal cortex function is implicated in schizophrenia (SCZ) pathophysiology and could arise from imbalance between excitation and inhibition (E/I) in local circuits. It remains unclear whether and how such imbalances relate to genetic etiologies. We used a mouse model of the SCZ-predisposing 22q11.2 deletion (Df(16)A+/- mice) to evaluate how this genetic lesion affects the excitability of layer V prefrontal pyramidal neurons and its modulation by dopamine (DA). Df(16)A+/- mice have normal balance between E/I at baseline but are unable to maintain it upon dopaminergic challenge...
May 19, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28524075/examining-the-overlap-between-autism-spectrum-disorder-and-22q11-2-deletion-syndrome
#19
Opal Ousley, A Nichole Evans, Samuel Fernandez-Carriba, Erica L Smearman, Kimberly Rockers, Michael J Morrier, David W Evans, Karlene Coleman, Joseph Cubells
22q11.2 deletion syndrome (22q11.2DS) is a genomic disorder reported to associate with autism spectrum disorders (ASDs) in 15-50% of cases; however, others suggest that individuals with 22q11.2DS present psychiatric or behavioral features associated with ASDs, but do not meet full criteria for ASD diagnoses. Such wide variability in findings may arise in part due to methodological differences across studies. Our study sought to determine whether individuals with 22q11.2DS meet strict ASD diagnostic criteria using research-based guidelines from the Collaborative Programs of Excellence in Autism (CPEA), which required a gathering of information from three sources: the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observational Schedule (ADOS), and a clinician's best-estimate diagnosis...
May 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28521049/22q11-2-deletion-syndrome-is-associated-with-impaired-auditory-steady-state-gamma-response
#20
Kit Melissa Larsen, Giovanni Pellegrino, Michelle Rosgaard Birknow, Trine Nørgaard Kjær, William Frans Christiaan Baaré, Michael Didriksen, Line Olsen, Thomas Werge, Morten Mørup, Hartwig Roman Siebner
Background: The 22q11.2 deletion syndrome confers a markedly increased risk for schizophrenia. 22q11.2 deletion carriers without manifest psychotic disorder offer the possibility to identify functional abnormalities that precede clinical onset. Since schizophrenia is associated with a reduced cortical gamma response to auditory stimulation at 40 Hz, we hypothesized that the 40 Hz auditory steady-state response (ASSR) may be attenuated in nonpsychotic individuals with a 22q11.2 deletion...
May 17, 2017: Schizophrenia Bulletin
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