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22q11 deletion

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https://www.readbyqxmd.com/read/29341423/variable-immune-deficiency-related-to-deletion-size-in-chromosome-22q11-2-deletion-syndrome
#1
Blaine Crowley, Melanie Ruffner, Donna M McDonald McGinn, Kathleen E Sullivan
The clinical features of 22q11.2 deletion syndrome include virtually every organ of the body. This review will focus on the immune system and the differences related to deletion breakpoints. A hypoplastic thymus was one of the first features described in this syndrome and low T cell counts, as a consequence of thymic hypoplasia, are the most commonly described immunologic feature. These are most prominently seen in early childhood and can be associated with increased persistence of viruses. Later in life, evidence of T cell exhaustion may be seen and secondary deficiencies of antibody function have been described...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29340157/hypocalcemia-due-to-22q11-2-deletion-syndrome-diagnosed-in-adulthood
#2
Maria Cabrer, Guillermo Serra, María Soledad Gogorza, Vicente Pereg
Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic syndrome that may present with hypocalcemia due to primary hypoparathyroidism (PH) at any age. We report a new diagnosis of 22q11.2DS in a 57-year-old man who presented with symptomatic hypocalcemia. It is important to consider genetic causes of hypocalcemia due to PH regardless of age. Learning points: It is important to discard genetic cause of primary hypoparathyroidism in a patient without autoimmune disease or prior neck surgery...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29338796/cortical-morphology-development-in-patients-with-22q11-2-deletion-syndrome-at-ultra-high-risk-of-psychosis
#3
Maria Carmela Padula, Marie Schaer, Marco Armando, Corrado Sandini, Daniela Zöller, Elisa Scariati, Maude Schneider, Stephan Eliez
BACKGROUND: Patients with 22q11.2 deletion syndrome (22q11DS) present a high risk of developing psychosis. While clinical and cognitive predictors for the conversion towards a full-blown psychotic disorder are well defined and largely used in practice, neural biomarkers do not yet exist. However, a number of investigations indicated an association between abnormalities in cortical morphology and higher symptoms severities in patients with 22q11DS. Nevertheless, few studies included homogeneous groups of patients differing in their psychotic symptoms profile...
January 17, 2018: Psychological Medicine
https://www.readbyqxmd.com/read/29331595/the-interaction-between-neurocognitive-functioning-subthreshold-psychotic-symptoms-and-pharmacotherapy-in-22q11-2-deletion-syndrome-a-longitudinal-comparative-study
#4
R Weinberger, O Weisman, Y Guri, T Harel, A Weizman, D Gothelf
BACKGROUND: The 22q11.2 deletion syndrome (22q11DS) is the most common genetic syndrome associated with schizophrenia. The goal of this study was to evaluate longitudinally the interaction between neurocognitive functioning, the presence of subthreshold psychotic symptoms (SPS) and conversion to psychosis in individuals with 22q11DS. In addition, we attempted to identify the specific neurocognitive domains that predict the longitudinal evolution of positive and negative SPS, as well as the effect of psychiatric medications on 22q11DS psychiatric and cognitive developmental trajectories...
December 8, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/29320483/microarray-analysis-in-pregnancies-with-isolated-unilateral-kidney-agenesis
#5
Lena Sagi-Dain, Idit Maya, Peleg Amir, Reches Adi, Ehud Banne, Hagit N Baris, Tenne Tamar, Amihood Singer, Shay Ben-Shachar
OBJECTIVE: To examine the risk for submicroscopic chromosomal aberrations among fetuses with apparently isolated solitary kidney. METHODS: Data acquisition was performed retrospectively by searching Israeli Ministry of Health computerized database. All cases having chromosomal microarray analysis (CMA) referred due to an indication of isolated unilateral kidney agenesis between January 2013 and September 2016 were included. Rate of clinically significant CMA findings in these pregnancies was compared to pregnancies with normal ultrasound, based on a systematic review encompassing 9792 cases and local data of 5541 pregnancies undergoing CMA due to maternal request...
January 10, 2018: Pediatric Research
https://www.readbyqxmd.com/read/29310563/evaluation-of-factors-associated-with-achievement-of-biventricular-repair-after-bilateral-pulmonary-artery-banding-in-patients-with-interrupted-aortic-arch
#6
Yasuhiro Hirano, Noboru Inamura, Yukiko Kawazu, Hisaaki Aoki, Futoshi Kayatani, Shigemitsu Iwai, Hiroaki Kawata
BACKGROUND: At our institution, we perform bilateral pulmonary artery banding (BPAB) as the first-stage palliation for interrupted aortic arch (IAA) with low birth weight or severe subaortic stenosis (SAS). The present study aimed to identify factors that may influence the decision regarding the type of second-stage operation, that is, univentricular palliation or biventricular repair, in these patients. METHODS: Cardiac catheterization and angiographic data of nine patients with IAA who underwent initial BPAB and subsequent univentricular or biventricular repair were retrospectively analyzed...
January 2018: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/29305086/the-candidate-schizophrenia-risk-gene-dgcr2-regulates-early-steps-of-corticogenesis
#7
Aude Molinard-Chenu, Alexandre Dayer
BACKGROUND: Alterations in early steps of cortical circuit assembly are thought to play a critical role in vulnerability to schizophrenia (SZ), but the pathogenic impact of SZ-risk mutations on corticogenesis remains to be determined. DiGeorge syndrome critical region 2 (DGCR2) is located in the 22q11.2 locus, whose deletion is a major risk factor for SZ. Moreover, exome sequencing of individuals with idiopathic SZ identified a rare missense mutation in DGCR2, further suggesting that DGCR2 is involved in SZ...
November 21, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29301846/epithelial-properties-of-the-second-heart-field
#8
REVIEW
Claudio Cortes, Alexandre Francou, Christopher De Bono, Robert G Kelly
The vertebrate heart tube forms from epithelial progenitor cells in the early embryo and subsequently elongates by progressive addition of second heart field (SHF) progenitor cells from adjacent splanchnic mesoderm. Failure to maximally elongate the heart results in a spectrum of morphological defects affecting the cardiac poles, including outflow tract alignment and atrioventricular septal defects, among the most common congenital birth anomalies. SHF cells constitute an atypical apicobasally polarized epithelium with dynamic basal filopodia, located in the dorsal wall of the pericardial cavity...
January 5, 2018: Circulation Research
https://www.readbyqxmd.com/read/29288792/distal-deletion-at-22q11-2-as-differential-diagnosis-in-craniofacial-microsomia-case-report-and-literature-review
#9
Samira Spineli-Silva, Luciana M Bispo, Vera L Gil-da-Silva-Lopes, Társis P Vieira
Craniofacial Microsomia (CFM) also known as Oculo-auriculo-vertebral Spectrum (OAVS) or Goldenhar Syndrome, presents wide phenotypic and etiological heterogeneity. It affects mainly the structures originated from the first and second pharyngeal arches. In addition, other major anomalies may also be found, including congenital heart diseases. In this study, we report a patient with distal deletion in the 22q11.2 region and a phenotype which resembles CFM. The proband is a girl, who presented bilateral preauricular tags, left auditory canal stenosis, - malar hypoplasia, cleft lip and palate, mild asymmetry of soft tissue in face, congenital heart disease, intestinal atresia, annular pancreas and hydronephrosis...
December 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29288155/association-between-tetralogy-of-fallot-and-tracheobronchial-branching-abnormalities-a-new-clue-for-pathogenesis
#10
Guillaume Chassagnon, Bruno Lefort, Mathilde Meot, Elodie Carpentier, Dominique Sirinelli, Alain Chantepie, Baptiste Morel
BACKGROUND: In our practice, we noticed an increased frequency of tracheobronchial branching abnormalities (TBAs) in patients with tetralogy of Fallot (ToF). This study aimed to determine whether an association exists between congenital TBAs and ToF with or without pulmonary atresia. METHODS AND RESULTS: The frequency of TBAs on chest computed tomography was assessed in 55 patients with ToF without pulmonary atresia, 34 patients with ToF with pulmonary arteria, and 100 control patients...
December 29, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29287846/congenital-respiratory-tract-disorders-in-22q11-2-deletion-syndrome
#11
Emmy Verheij, Lucienne Speleman, Aebele B Mink van der Molen, Henricus G X M Thomeer
OBJECTIVE: Respiratory tract disorders have been reported in patients with 22q11.2 deletion syndrome, however infrequently. This study describes the respiratory tract disorders encountered in a cohort of 278 patients with 22q11.2 deletion syndrome. METHODS: We conducted a retrospective, cross-sectional, study at a single tertiary referral center. We identified the patients with 22q11.2 deletion syndrome and with an upper and/or lower respiratory tract disorder at our otorhinolaryngologic department...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29285825/targeted-copy-number-screening-highlights-an-intragenic-deletion-of-wdr63-as-the-likely-cause-of-human-occipital-encephalocele-and-abnormal-cns-development-in-zebrafish
#12
Wolfgang Hofmeister, Maria Pettersson, Deniz Kurtoglu, Miriam Armenio, Jesper Eisfeldt, Nikos Papadogiannakis, Peter Gustavsson, Anna Lindstrand
Congenital malformations affecting the neural tube can present as isolated malformations or occur in association with other developmental abnormalities and syndromes. Using high resolution copy number screening in 66 fetuses with neural tube defects we identified 6 fetuses with likely pathogenic mutations, three aneuploidies (one trisomy 13 and two trisomy 18) and three deletions previously reported in NTDs (one 22q11.2 deletion and two 1p36 deletions) corresponding to 9% of the cohort. In addition, we identified five rare deletions and two duplications of uncertain significance including a rare intragenic heterozygous in-frame WDR63 deletion in a fetus with occipital encephalocele...
December 28, 2017: Human Mutation
https://www.readbyqxmd.com/read/29281626/integrated-rare-variant-based-risk-gene-prioritization-in-disease-case-control-sequencing-studies
#13
Jhih-Rong Lin, Quanwei Zhang, Ying Cai, Bernice E Morrow, Zhengdong D Zhang
Rare variants of major effect play an important role in human complex diseases and can be discovered by sequencing-based genome-wide association studies. Here, we introduce an integrated approach that combines the rare variant association test with gene network and phenotype information to identify risk genes implicated by rare variants for human complex diseases. Our data integration method follows a 'discovery-driven' strategy without relying on prior knowledge about the disease and thus maintains the unbiased character of genome-wide association studies...
December 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29279955/duplication-and-deletion-of-22q11-associated-with-anomalous-pulmonary-venous-connection
#14
Ruixue Cao, Sijie Liu, Chunjie Liu, Sun Chen, Fen Li, Kun Sun, Rang Xu
Anomalous pulmonary venous connection (APVC) is an uncommon congenital anomaly in which pulmonary venous blood flows directly into the right side of the heart or into the systemic veins. To identify whether there is any association between 22q11 CNVs and APVC, we analyzed the clinical data of 86 APVC patients and then studied the CNVs of 22q11 in 86 sporadic APVC patients by multiplex ligation-dependent probe amplification. The results showed that two patients carried the CNVs of 22q11, one patient had the deletion of 22q11 and the other had the duplication of 22q11...
December 26, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/29246465/resource-use-and-morbidities-in-pediatric-cardiac-surgery-patients-with-genetic-conditions
#15
Jamie Furlong-Dillard, David Bailly, Venugopal Amula, Jacob Wilkes, Susan Bratton
OBJECTIVE: To evaluate and describe resource use and perioperative morbidities among those patients with genetic conditions undergoing cardiac surgery. STUDY DESIGN: Using the Pediatric Health Information System database, we identified patients ≤18 years old with cardiac surgery classified by Risk Adjustment for Congenital Heart Surgery (RACHS) during 2003-2014. A total of 95 253 patients met study criteria and included no genetic conditions (84.6%), trisomy 21 (9...
December 12, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29233233/chromosome-22q11-deletion-in-a-patient-with-pulmonary-atresia-intact-ventricular-septum-and-confluent-branch-pulmonary-arteries
#16
Varun Aggarwal, Michaki Imamura, Carlos Acuna, Antonio G Cabrera
In this study, we report a patient with pulmonary atresia with intact ventricular septum (PA/IVS), confluent pulmonary arteries supplied by an arterial duct, and chromosome 22q11.2 microdeletion. The 22q11.2 deletion syndrome has been associated with anomalies of the outflow tracts, such as tetralogy of Fallot with either pulmonary stenosis or atresia, but we are aware of a solitary case described with pulmonary atresia when the ventricular septum is intact. The presence of genetic malformations can have long-term co-morbidities...
December 13, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/29212157/pka-activation-and-endothelial-claudin-5-breakdown-in-the-schizophrenic-prefrontal-cortex
#17
Keisuke Nishiura, Naoki Ichikawa-Tomikawa, Kotaro Sugimoto, Yasuto Kunii, Korehito Kashiwagi, Mizuko Tanaka, Yuichi Yokoyama, Mizuki Hino, Takashi Sugino, Hirooki Yabe, Hitoshi Takahashi, Akiyoshi Kakita, Tetsuya Imura, Hideki Chiba
Schizophrenia is thought to be caused by a combination of genetic and environmental factors; however, its pathogenesis remains largely unknown. Here, we focus on the endothelial tight-junction protein claudin-5 (CLDN5), because the CLDN5 gene is mapped to the schizophrenia-associated 22q11.2 deletion region, and a single nucleotide polymorphism in the CLDN5 locus is also linked to schizophrenia. We show, by RT-qPCR and immunohistochemistry, that the expressions of CLDN5 mRNA and protein are significantly increased and decreased, respectively, in the schizophrenic prefrontal cortex (PFC) compared with control PFC...
November 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/29194955/incomplete-penetrance-variable-expressivity-or-dosage-insensitivity-in-four-families-with-directly-transmitted-unbalanced-chromosome-abnormalities
#18
Mark S Bateman, Morag N Collinson, David J Bunyan, Amanda L Collins, Philippa Duncan, Rachel Firth, Victoria Harrison, Tessa Homfray, Shuwen Huang, Beth Kirk, Katherine L Lachlan, Viv K Maloney, John C K Barber
The direct transmission of microscopically visible unbalanced chromosome abnormalities (UBCAs) is rare and usually has phenotypic consequences. Here we report four families in which a normal phenotype was initially found in one or more family members. Each UBCA was interpreted with regard to overlapping examples and factors previously associated with transmitted imbalances including incidental ascertainment, low gene density, benign copy number variation (CNV) content, and gene relatedness. A 4.56 Mb deletion of 8p23...
December 1, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29191496/a-higher-rare-cnv-burden-in-the-genetic-background-potentially-contributes-to-intellectual-disability-phenotypes-in-22q11-2-deletion-syndrome
#19
Matthew Jensen, R Frank Kooy, Tony J Simon, Edwin Reyniers, Santhosh Girirajan, Flora Tassone
The 22q11.2 deletion syndrome (22q11DS), the most common survivable human genetic deletion disorder, is caused by a hemizygous deletion of 30-40 contiguous genes on chromosome 22, many of which have not been well characterized. Clinical features seen in patients with this deletion, including intellectual disability, are not completely penetrant and vary in severity between patients, suggesting the involvement of variants elsewhere in the genome in the manifestation of the phenotype. Given that it is a relatively rare disorder (1/2000-6000 in humans), limited research has shed light into the contribution of these second-site variants to the developmental pathogenesis that underlies 22q11DS...
November 28, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29178641/pediatric-healthcare-costs-for-patients-with-22q11-2-deletion-syndrome
#20
Peter Benn, Sushma Iyengar, Terrence Blaine Crowley, Elaine H Zackai, Evanette K Burrows, Solomon Moshkevich, Donna M McDonald-McGinn, Kathleen E Sullivan, Zachary Demko
BACKGROUND: The 22q11.2 deletion syndrome is a variably expressed disorder that can include cardiac, palate, and other physical abnormalities, immunodeficiency, and hypocalcemia. Because of the extreme variability in phenotype, there has been no available estimate of the total medical expenditure associated with the average case. METHODS: We have developed a model to estimate the cost from the time of diagnosis to age 20. Costs were based on patients seen at a specialty center but also considered those components of care expected to have been provided by external healthcare facilities...
November 2017: Molecular Genetics & Genomic Medicine
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