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22q11 deletion

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https://www.readbyqxmd.com/read/28072476/aberrant-right-subclavian-artery-correlation-between-fetal-and-neonatal-abnormalities-and-abnormal-genetic-screening-or-testing
#1
Angela C Ranzini, Francine Hyman, Emily Jamaer, Tim van Mieghem
OBJECTIVES: To determine whether fetuses with an isolated aberrant course of the right subclavian artery (ARSA) have increased risk for chromosomal abnormalities, including trisomy 21 or 22q11 deletion. METHODS: We performed a retrospective chart review of all fetuses with antenatally diagnosed ARSA. Data were collected from fetal anatomic surveys, fetal echocardiograms, noninvasive trisomy 21 screening programs, invasive genetic studies, and neonatal records. RESULTS: Seventy-nine fetuses with ARSA were identified at 20...
January 10, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28059126/an-exploratory-study-of-predisposing-genetic-factors-for-digeorge-velocardiofacial-syndrome
#2
Laia Vergés, Francesca Vidal, Esther Geán, Alexandra Alemany-Schmidt, Maria Oliver-Bonet, Joan Blanco
DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a disorder caused by a 22q11.2 deletion mediated by non-allelic homologous recombination (NAHR) between low-copy repeats (LCRs). We have evaluated the role of LCR22 genomic architecture and PRDM9 variants as DGS/VCFS predisposing factors. We applied FISH using fosmid probes on chromatin fibers to analyze the number of tandem repeat blocks in LCR22 in two DGS/VCFS fathers-of-origin with proven 22q11.2 NAHR susceptibility. Results revealed copy number variations (CNVs) of L9 and K3 fosmids in these individuals compared to controls...
January 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28044359/mitochondria-in-complex-psychiatric-disorders-lessons-from-mouse-models-of-22q11-2-deletion-syndrome-hemizygous-deletion-of-several-mitochondrial-genes-in-the-22q11-2-genomic-region-can-lead-to-symptoms-associated-with-neuropsychiatric-disease
#3
Prakash Devaraju, Stanislav S Zakharenko
Mitochondrial ATP synthesis, calcium buffering, and trafficking affect neuronal function and survival. Several genes implicated in mitochondrial functions map within the genomic region associated with 22q11.2 deletion syndrome (22q11DS), which is a key genetic cause of neuropsychiatric diseases. Although neuropsychiatric diseases impose a serious health and economic burden, their etiology and pathogenesis remain largely unknown because of the dearth of valid animal models and the challenges in investigating the pathophysiology in neuronal circuits...
January 3, 2017: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/28041919/negative-subthreshold-psychotic-symptoms-distinguish-22q11-2-deletion-syndrome-from-other-neurodevelopmental-disorders-a-two-site-study
#4
Ehud Mekori-Domachevsky, Yael Guri, James Yi, Omri Weisman, Monica E Calkins, Sunny X Tang, Raz Gross, Donna M McDonald-McGinn, Beverly S Emanuel, Elaine H Zackai, Gil Zalsman, Abraham Weizman, Ruben C Gur, Raquel E Gur, Doron Gothelf
About one third of individuals with 22q11.2 deletion syndrome (22q11.2DS) develop schizophrenia. Notably, a full-blown psychotic disorder is usually preceded by subthreshold symptoms. Therefore, it is important to identify early signs of psychosis in this population, a task that is complicated by the intellectual disabilities typically seen in 22q11.2DS. We aimed to identify subthreshold psychotic symptoms that distinguish 22q11.2DS from other neurodevelopmental disorders. The study included two independent cohorts from Tel Aviv and Philadelphia...
December 29, 2016: Schizophrenia Research
https://www.readbyqxmd.com/read/28035386/microduplication-of-7q36-3-encompassing-the-shh-long%C3%A2-range-regulator-zrs-in-a-patient-with-triphalangeal-thumb%C3%A2-polysyndactyly-syndrome-and-congenital-heart-disease
#5
Zhenghua Liu, Ni Yin, Lianghui Gong, Zhiping Tan, Bangliang Yin, Yifeng Yang, Cheng Luo
Triphalangeal thumb‑polysyndactyly syndrome (TPT‑PS) is an autosomal dominant disorder with complete penetrance and a variable expression consisting of opposable triphalangeal thumbs, duplication of the distal thumb phalanx, pre‑axial polydactyly and duplication of the big toes (hallux). The causative gene of TPT‑PS has been mapped to 7q36.3. Sonic hedgehog (SHH) expressed in the zone of polarizing activity (ZPA) has an important role in defining the anterior‑posterior axis and numbers of digits in limb bud development...
December 29, 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28006043/health-care-resource-use-in-patients-with-and-without-22q11-2-deletion-syndrome-undergoing-sphincter-pharyngoplasty-for-velopharyngeal-insufficiency
#6
Darrell T Wright, Shaun A Nguyen, Ronald J Teufel, David R White
Importance: The use of health care resources in patients with velopharyngeal insufficiency undergoing sphincter pharyngoplasty is unknown. Objectives: To examine the use of health care resources by patients with velopharyngeal insufficiency who have undergone sphincter pharyngoplasty and investigate whether patients with 22q11.2 deletion syndrome (22qDS) had a longer length of stay, increased cost of admission, and higher number of complications. Design, Setting, and Participants: Using data from the Kids' Inpatient Database for January 1 to December 31, 2012, we retrospectively analyzed all patients undergoing pharyngoplasty for velopharyngeal insufficiency...
December 22, 2016: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/27996952/a-bronchovascular-anomaly-in-a-patient-with-22q11-2-deletion-syndrome
#7
R Romano, E Cirillo, G Giardino, V Gallo, C Mollica, C Pignata
No abstract text is available yet for this article.
2016: Journal of Investigational Allergology & Clinical Immunology
https://www.readbyqxmd.com/read/27990414/what-is-new-in-genetics-of-congenital-heart-defects
#8
REVIEW
Maria Cristina Digilio, Bruno Marino
Epidemiological studies, clinical observations, and advances in molecular genetics are contributing to the understanding of the etiology of congenital heart defects (CHDs). Several phenotype-genotype correlation studies have suggested that specific morphogenetic mechanisms put in motion by genes can result in a specific cardiac phenotype. The use of new technologies has increased the possibility of identification of new genes and chromosomal loci in syndromic and non-syndromic CHDs. There are a number of methods available for genetic research studies of CHDs, including cytogenetic analysis, linkage and association studies, copy number variation (CNV) and DNA micro-array analysis, and whole exome sequencing...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27988073/longitudinal-trajectories-of-cortical-thickness-as-a-biomarker-for-psychosis-in-individuals-with-22q11-2-deletion-syndrome
#9
Seetha Ramanathan, Leah M Mattiaccio, Ioana L Coman, Jo-Anna C Botti, Wanda Fremont, Stephen V Faraone, Kevin M Antshel, Wendy R Kates
OBJECTIVE: 22q11.2 deletion syndrome (DS) or velo-cardio-facial syndrome (VCFS) is a genetic condition that has been identified as the highest genetic risk factor for developing psychotic illnesses. This unique biological nature of 22q11DS provides a valuable opportunity to explore predictive biomarkers of psychosis. In this study, we examined the relationship of cortical thickness and surface area between various brain regions and prodromal symptoms of psychosis. METHODS: 75 probands with 22q11DS, 32 age-matched controls and 28 siblings underwent MRIs over 2 or 3 timepoints...
December 14, 2016: Schizophrenia Research
https://www.readbyqxmd.com/read/27965957/22q11-deletion-syndrome-and-urogenital-manifestations-a-clinicopathological-case-report
#10
M Vachette, G E Grant, J Bouquet de la Joliniere, M Jotterand, N Ben Ali, A Feki, R Capoccia Brugger
BACKGROUND: Deletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive phenotype with more than 180 clinical features described that involve every organ and system. HISTORY AND SIGNS: A 23-year-old African woman presented for the first trimester echography, which revealed an isolated anechoic structure suggesting a ureteral dilatation. The suspicion of a malposition of great arteries in the second trimester indicated an amniocentesis leading to a diagnosis of 22q11 deletion...
2016: Frontiers in Medicine
https://www.readbyqxmd.com/read/27957375/cardiovascular-malformations-in-charge-syndrome-with-digeorge-phenotype-two-case-reports
#11
Kazushi Yasuda, Eiji Morihana, Naoki Fusazaki, Shiro Ishikawa
Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion syndrome, while conotruncal defects and atrioventricular septal defects are overrepresented in patients with CHARGE syndrome. CHD7 gene mutation is identified in approximately two-thirds of patients with CHARGE syndrome, and chromosomal microdeletion at 22q11...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27956721/otologic-and-audiologic-outcomes-in-pediatric-patients-with-velo-cardio-facial-22q11-deletion-syndrome
#12
Forest W Weir, Sarah A Wallace, David R White, Jonathan L Hatch, Shaun A Nguyen, Ted A Meyer
OBJECTIVE: The focus of this study was to evaluate the prevalence, type, and severity of hearing impairment in patients with velo-cardio-facial syndrome (VCFS) and to compare these characteristics with patient demographics and other otologic factors. STUDY DESIGN: Retrospective analysis of the AudGen Database. SETTING: Tertiary academic referral center. PATIENTS: Pediatric patients in AudGenDB with a diagnosis of velo-cardio-facial syndrome or DiGeorge syndrome...
January 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/27932423/integrated-genomic-analysis-of-survival-outliers-in-glioblastoma
#13
Sen Peng, Harshil Dhurv, Brock Armstrong, Bodour Salhia, Christophe Legendre, Jeffrey Kiefer, Julianna Parks, Selene Virk, Andrew E Sloan, Quinn T Ostrom, Jill S Barnholtz-Sloan, Nhan L Tran, Michael E Berens
BACKGROUND: To elucidate molecular features associated with disproportionate survival of glioblastoma (GB) patients, we conducted deep genomic comparative analysis of a cohort of patients receiving standard therapy (surgery plus concurrent radiation and temozolomide); "GB outliers" were identified: long-term survivor of 33 months (LTS; n = 8) versus short-term survivor of 7 months (STS; n = 10). METHODS: We implemented exome, RNA, whole genome sequencing, and DNA methylation for collection of deep genomic data from STS and LTS GB patients...
December 8, 2016: Neuro-oncology
https://www.readbyqxmd.com/read/27930557/application-of-array-comparative-genomic-hybridization-in-tetralogy-of-fallot
#14
Lin Liu, Hong-Dan Wang, Cun-Ying Cui, Dong Wu, Tao Li, Tai-Bing Fan, Bang-Tian Peng, Lian-Zhong Zhang, Cheng-Zeng Wang
To explore the underlying pathogenesis and provide references for genetic counseling and prenatal gene diagnosis, we analyzed the chromosome karyotypes and genome-wide copy number variations (CNVs) in 86 patients with tetralogy of Fallot (TOF) by G-banding karyotype analysis and array-comparative genomic hybridization (aCGH), respectively. And then quantitative polymerase chain reaction was used to validate these candidate CNVs. Based on their different properties, CNVs were categorized into benign CNVs, suspiciously pathogenic CNVs, and indefinite CNVs...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27918911/cortical-amygdala-volumetric-ratios-predict-onset-of-symptoms-of-psychosis-in-22q11-2-deletion-syndrome
#15
David Berhanu, Leah M Mattiaccio, Kevin M Antshel, Wanda Fremont, Frank A Middleton, Wendy R Kates
Dysfunction of cortical circuitry involving prefrontal cortex, cingulate gyrus and mesial temporal lobe has been implicated in the pathophysiology of psychotic symptoms. 22q11.2 deletion syndrome (22q11DS) is a neurogenetic disorder that comports a 25-fold increased risk of developing psychosis. Morphological changes in the neuroanatomy of this syndrome may represent a biological risk factor for the development of psychosis. The present study explored ratios between cortical volumes and the amygdala. We also explored relationships between these ratios and the eventual development of psychosis in youth with 22q11DS...
January 30, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/27892953/thalamic-mir-338-3p-mediates-auditory-thalamocortical-disruption-and-its-late-onset-in-models-of-22q11-2-microdeletion
#16
Sungkun Chun, Fei Du, Joby J Westmoreland, Seung Baek Han, Yong-Dong Wang, Donnie Eddins, Ildar T Bayazitov, Prakash Devaraju, Jing Yu, Marcia M Mellado Lagarde, Kara Anderson, Stanislav S Zakharenko
Although 22q11.2 deletion syndrome (22q11DS) is associated with early-life behavioral abnormalities, affected individuals are also at high risk for the development of schizophrenia symptoms, including psychosis, later in life. Auditory thalamocortical (TC) projections recently emerged as a neural circuit that is specifically disrupted in mouse models of 22q11DS (hereafter referred to as 22q11DS mice), in which haploinsufficiency of the microRNA (miRNA)-processing-factor-encoding gene Dgcr8 results in the elevation of the dopamine receptor Drd2 in the auditory thalamus, an abnormal sensitivity of thalamocortical projections to antipsychotics, and an abnormal acoustic-startle response...
January 2017: Nature Medicine
https://www.readbyqxmd.com/read/27891188/associations-between-social-cognition-skills-and-function-and-subclinical-negative-and-positive-symptoms-in-22q11-2-deletion-syndrome
#17
A Vangkilde, J R M Jepsen, H Schmock, C Olesen, S Arnarsdóttir, W F C Baaré, K J Plessen, M Didriksen, H R Siebner, T Werge, L Olsen
BACKGROUND: Identification of the early signs of schizophrenia would be a major achievement for the early intervention and prevention strategies in psychiatry. Social impairments are defining features of schizophrenia. Impairments of individual layers of social competencies are frequently described in individuals with 22q11.2 deletion syndrome (22q11.2DS), who have high risk of schizophrenia. It is unclear whether and to what extent social impairments associate with subclinical negative and positive symptoms in 22q11...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27880953/deletion-of-top3b-is-associated-with-cognitive-impairment-and-facial-dysmorphism
#18
Carolyn S Kaufman, Ann Genovese, Merlin G Butler
Deletions of different regions of chromosome 22q11 have been extensively characterized in the literature, with a recent review outlining common deletions with a standardized system proposed for classification and nomenclature. The genotype-phenotype relationships have not been sufficiently elucidated for these deletions, and it remains unclear which specific genes play the dominant roles in producing associated clinical features. Several deletions involve entirely distinct regions of chromosome 22q11 but do not overlap, suggesting that a number of different genes contribute to the clinical features...
November 24, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27879657/screening-for-mutations-in-the-tbx1-gene-on-chromosome-22q11-2-in-schizophrenia
#19
Lieh-Yung Ping, Yang-An Chuang, Shih-Hsin Hsu, Hsin-Yao Tsai, Min-Chih Cheng
A higher-than-expected frequency of schizophrenia in patients with 22q11.2 deletion syndrome suggests that chromosome 22q11.2 harbors the responsive genes related to the pathophysiology of schizophrenia. The TBX1 gene, which maps to the region on chromosome 22q11.2, plays a vital role in neuronal functions. Haploinsufficiency of the TBX1 gene is associated with schizophrenia endophenotype. This study aimed to investigate whether the TBX1 gene is associated with schizophrenia. We searched for mutations in the TBX1 gene in 652 patients with schizophrenia and 567 control subjects using a re-sequencing method and conducted a reporter gene assay...
November 22, 2016: Genes
https://www.readbyqxmd.com/read/27858403/cardiac-rehabilitation-in-an-adolescent-with-digeorge-syndrome-a-case-report
#20
Dong J Kim, Ka Y Lee, Yuri Choe, Jae Y Han, In S Choi
BACKGROUND: Digeorge syndrome is a rare disease that has variable clinical symptoms resulting from 22q11 deletions, included cardiac abnormality, abnormal face and thymic aplasia, and cognitive impairment. There was a no reports regarding the efficiency of cardiac rehabilitation (CR) in patients with Digeorge syndrome with tetralogy of fallot. CASE REPORT: A 15-year-old girl with DGS visited our CR center. The patient carried out the exercise training 3 times a week for 6 weeks, using a treadmill with electrocardiogram monitoring...
November 18, 2016: European Journal of Physical and Rehabilitation Medicine
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