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22q11 deletion

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https://www.readbyqxmd.com/read/28929285/genomic-disorders-in-psychiatry-what-does-the-clinician-need-to-know
#1
REVIEW
Chelsea Lowther, Gregory Costain, Danielle A Baribeau, Anne S Bassett
PURPOSE OF REVIEW: The purpose of this review is to summarize the role of genomic disorders in various psychiatric conditions and to highlight important recent advances in the field that are of potential clinical relevance. RECENT FINDINGS: Genomic disorders are caused by large rare recurrent deletions and duplications at certain chromosomal "hotspots" (e.g., 22q11.2, 16p11.2, 15q11-q13, 1q21.1, 15q13.3) across the genome. Most overlap multiple genes, affect development, and are associated with variable cognitive and other neuropsychiatric expression...
September 20, 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28919146/m%C3%A3-llerian-agenesis-in-cat-eye-syndrome-and-22q11-chromosome-abnormalities-a-case-report-and-literature-review
#2
Abdulmajeed AlSubaihin, John VanderMeulen, Kate Harris, John Duck, Elizabeth McCready
BACKGROUND: Although Müllerian agenesis is the second most common cause of primary amenorrhea the underlying etiology in the majority of cases is unknown. Müllerian agenesis has been reported as a rare finding associated with chromosomal aberrations of the 22q11 chromosomal region including at least one individual with cat eye syndrome (CES) and 10 individuals with deletions or duplications of the 22q11.2 region. However, a potential link between 22q11 abnormalities and uterine malformations has been difficult to adequately ascertain given the limited case reports in the literature...
September 14, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28916820/accumulation-of-minor-alleles-and-risk-prediction-in-schizophrenia
#3
Pei He, Xiaoyun Lei, Dejian Yuan, Zuobin Zhu, Shi Huang
Schizophrenia is a common neuropsychiatric disorder with a lifetime risk of 1%. Accumulation of common polygenic variations has been found to be an important risk factor. Recent studies showed a role for the enrichment of minor alleles (MAs) of SNPs in complex diseases such as Parkinson's disease. Here we similarly studied the role of genome wide MAs in schizophrenia using public datasets. Relative to matched controls, schizophrenia cases showed higher average values in minor allele content (MAC) or the average amount of MAs per subject...
September 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28905115/clinical-application-of-snp-array-analysis-in-fetuses-with-ventricular-septal-defects-and-normal-karyotypes
#4
Fang Fu, Qiong Deng, Ting-Ying Lei, Ru Li, Xiang-Yi Jing, Xin Yang, Can Liao
PURPOSE: The present study aims to evaluate the utility of high-resolution single-nucleotide polymorphism (SNP) arrays in fetuses with ventricular septal defects (VSDs) with or without other structural anomalies but with normal karyotypes and to investigate the outcomes of cases of prenatal VSDs via clinical follow-up. METHODS: We analyzed 144 fetuses with VSDs and normal karyotypes using Affymetrix CytoScan HD arrays and the analyses were carried out a year after birth...
September 13, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28889126/chromosomal-microarray-analysis-in-fetuses-with-growth-restriction-and-normal-karyotype-a-systematic-review-and-meta-analysis
#5
Antoni Borrell, Maribel Grande, Montse Pauta, Laia Rodriguez-Revenga, Francesc Figueras
OBJECTIVE: To perform a systematic review of the literature and a meta-analysis to estimate the incremental yield of chromosomal microarray analysis (CMA) over karyotyping in fetal growth restriction (FGR). METHODS: This was a systematic review conducted in accordance with the PRISMA criteria. All articles identified in PubMed, Ovid Medline, and ISI Web of Knowledge (Web of Science) from January 2009 to November 2016 describing pathogenic copy number variants (CNVs) in fetuses with growth restriction were included...
September 9, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28882829/childhood-cognitive-development-in-22q11-2-deletion-syndrome-case-control-study
#6
Samuel J R A Chawner, Joanne L Doherty, Hayley Moss, Maria Niarchou, James T R Walters, Michael J Owen, Marianne B M van den Bree
Background22q11.2 deletion syndrome (22q11.2DS) is associated with a high risk of childhood as well as adult psychiatric disorders, in particular schizophrenia. Childhood cognitive deterioration in 22q11.2DS has previously been reported, but only in studies lacking a control sample.AimsTo compare cognitive trajectories in children with 22q11.2DS and unaffected control siblings.MethodA longitudinal study of neurocognitive functioning (IQ, executive function, processing speed and attention) was conducted in children with 22q11...
September 7, 2017: British Journal of Psychiatry: the Journal of Mental Science
https://www.readbyqxmd.com/read/28880457/development-of-quality-metrics-for-ambulatory-care-in-pediatric-patients-with-tetralogy-of-fallot
#7
Juan Villafane, Thomas C Edwards, Karim A Diab, Gary M Satou, Elizabeth Saarel, Wyman W Lai, Gerald A Serwer, Peter P Karpawich, Russell Cross, Russell Schiff, Devyani Chowdhury, Thomas J Hougen
OBJECTIVE: The objective of this study was to develop quality metrics (QMs) relating to the ambulatory care of children after complete repair of tetralogy of Fallot (TOF). DESIGN: A workgroup team (WT) of pediatric cardiologists with expertise in all aspects of ambulatory cardiac management was formed at the request of the American College of Cardiology (ACC) and the Adult Congenital and Pediatric Cardiology Council (ACPC), to review published guidelines and consensus data relating to the ambulatory care of repaired TOF patients under the age of 18 years...
September 7, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28878608/diagnostic-approach-to-microdeletion-syndromes-based-on-22q11-2-investigation-challenges-in-four-cases
#8
Ilária C Sgardioli, Matheus de Mello Copelli, Fabíola P Monteiro, Ana P Dos Santos, Elaine Lustosa Mendes, Társis Paiva Vieira, Vera L Gil-da-Silva-Lopes
In the last few decades, different methods for the detection of genomic imbalances, such as the microdeletion syndromes, were developed. The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome and presents wide clinical heterogeneity. The aim of this study was to describe 4 unusual cases of genomic imbalances found in individuals with suspected microdeletion syndromes. Different methods were necessary to complete the diagnosis and to obtain information for genetic counseling. The study was retrospective and descriptive...
August 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28878606/major-contribution-of-genomic-copy-number-variation-in-syndromic-congenital-heart-disease-the-use-of-mlpa-as-the-first-genetic-test
#9
Rejane A C Monteiro, Mariana L de Freitas, Gabrielle S Vianna, Valdirene T de Oliveira, Rafaella X Pietra, Luana C A Ferreira, Patrícia P O Rocha, Michele da S Gonçalves, Giovana da C César, Joziele de S Lima, Paula F V Medeiros, Juliana F Mazzeu, Fernanda S Jehee
Congenital heart disease (CHD) is the most common congenital disorder among live births. When associated with extracardiac abnormalities, it is characterized as a syndromic heart disease (syndromic CHD) and corresponds to 25% of all liveborn infants with a heart defect. The etiology in about 65% of the cases still remains unknown, and in about 35% of the patients, it is associated with genetic factors. In the present study, MLPA and SNP-array techniques were used to investigate a group of 47 patients with syndromic CHD...
August 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28869582/impaired-hippocampal-place-cell-dynamics-in-a-mouse-model-of-the-22q11-2-deletion
#10
Jeffrey D Zaremba, Anastasia Diamantopoulou, Nathan B Danielson, Andres D Grosmark, Patrick W Kaifosh, John C Bowler, Zhenrui Liao, Fraser T Sparks, Joseph A Gogos, Attila Losonczy
Hippocampal place cells represent the cellular substrate of episodic memory. Place cell ensembles reorganize to support learning but must also maintain stable representations to facilitate memory recall. Despite extensive research, the learning-related role of place cell dynamics in health and disease remains elusive. Using chronic two-photon Ca(2+) imaging in hippocampal area CA1 of wild-type and Df(16)A(+/-) mice, an animal model of 22q11.2 deletion syndrome, one of the most common genetic risk factors for cognitive dysfunction and schizophrenia, we found that goal-oriented learning in wild-type mice was supported by stable spatial maps and robust remapping of place fields toward the goal location...
September 4, 2017: Nature Neuroscience
https://www.readbyqxmd.com/read/28865345/white-matter-microstructural-deficits-in-22q11-2-deletion-syndrome
#11
David R Roalf, J Eric Schmitt, Simon N Vandekar, Theodore D Satterthwaite, Russell T Shinohara, Kosha Ruparel, Mark A Elliott, Karthik Prabhakaran, Donna M McDonald-McGinn, Elaine H Zackai, Ruben C Gur, Beverly S Emanuel, Raquel E Gur
Diffusion tensor imaging (DTI) studies in 22q11.2 deletion syndrome (22q11DS), a neurogenetic condition associated with psychosis, report brain white matter (WM) microstructure aberrations. Several studies report that WM disruptions in 22q11DS are similar to deficits in idiopathic schizophrenia. Yet, DTI results in 22q11DS are inconsistent. We used DTI to compare WM structure in 22q11DS individuals to healthy controls (HC) and explored WM differences in 22q11DS with (+) and without (-) psychosis spectrum symptoms...
August 24, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28833839/-at-the-end-of-the-day-it-is-more-important-that-he-stays-happy-an-interpretative-phenomenological-analysis-of-people-who-have-a-sibling-with-22q11-2-deletion-syndrome
#12
J Goodwin, S Alam, L E Campbell
BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome. However, there is little research examining the effect of this multisystem disorder on the family, particularly siblings. The current study was a phenomenological exploration of sense-making in siblings of a person with 22q11.2DS. METHOD: Interpretative phenomenological analysis informed a detailed and open examination of being a sibling of a person with 22q11.2DS. Using in-depth semistructured interviews, five typically developing siblings (two men, three women) of people with 22q11...
September 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28803847/psychotic-symptoms-influence-the-development-of-anterior-cingulate-bold-variability-in-22q11-2-deletion-syndrome
#13
Daniela Zöller, Maria Carmela Padula, Corrado Sandini, Maude Schneider, Elisa Scariati, Dimitri Van De Ville, Marie Schaer, Stephan Eliez
Chromosome 22q11.2 deletion syndrome (22q11DS) is a neurodevelopmental disorder associated with a broad phenotype of clinical, cognitive and psychiatric features. Due to the very high prevalence of schizophrenia (30-40%), the investigation of psychotic symptoms in the syndrome is promising to reveal biomarkers for the development of psychosis, also in the general population. Since schizophrenia is seen as a disorder of the dynamic interactions between brain networks, we here investigated brain dynamics, assessed by the variability of blood oxygenation level dependent (BOLD) signals, in patients with psychotic symptoms...
August 10, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28798405/progress-in-genome-wide-association-studies-of-schizophrenia-in-han-chinese-populations
#14
REVIEW
Weihua Yue, Xin Yu, Dai Zhang
Since 2006, genome-wide association studies of schizophrenia have led to the identification of numerous novel risk loci for this disease. However, there remains a geographical imbalance in genome-wide association studies, which to date have primarily focused on Western populations. During the last 6 years, genome-wide association studies in Han Chinese populations have identified both the sharing of susceptible loci across ethnicities and genes unique to Han Chinese populations. Here, we review recent progress in genome-wide association studies of schizophrenia in Han Chinese populations...
August 10, 2017: NPJ Schizophrenia
https://www.readbyqxmd.com/read/28794975/altered-structural-network-architecture-is-predictive-of-the-presence-of-psychotic-symptoms-in-patients-with-22q11-2-deletion-syndrome
#15
Maria C Padula, Elisa Scariati, Marie Schaer, Corrado Sandini, Marie Christine Ottet, Maude Schneider, Dimitri Van De Ville, Stephan Eliez
22q11.2 deletion syndrome (22q11DS) represents a homogeneous model of schizophrenia particularly suitable for the search of neural biomarkers of psychosis. Impairments in structural connectivity related to the presence of psychotic symptoms have been reported in patients with 22q11DS. However, the relationships between connectivity changes in patients with different symptomatic profiles are still largely unknown and warrant further investigations. In this study, we used structural connectivity to discriminate patients with 22q11DS with (N = 31) and without (N = 31) attenuated positive psychotic symptoms...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28777863/-application-of-chromosome-microarray-analysis-for-the-delineation-of-pathogenesis-for-fetal-ventriculomegaly
#16
Zhouzhou Li, Fang Fu, Tingying Lei, Ru Li, Xiangyi Jing, Xin Yang, Jin Han, Min Pan, Li Zhen, Can Liao
OBJECTIVE: To assess the value of genome-wide high-resolution chromosomal microarray analysis (CMA) for the delineation of pathogenesis for fetal ventriculomegaly diagnosed by ultrasound or magnetic resonance imaging (MRI). METHODS: Three hundred and forty-one cases of fetal ventriculomegaly were collected. The samples were grouped based on the extent of lateral ventricular dilatation, presence of additional features, site of occurrence, and the maternal age. All samples were subjected to karyotyping analysis...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28777851/-analysis-of-genomic-copy-number-variations-in-36-fetuses-with-heart-malformations-using-next-generation-sequencing
#17
Ming Gao, Hong Pang, Yanhui Zhao, Jesse Li-Ling
OBJECTIVE: To explore the implications of copy number variations (CNVs) for congenital heart diseases (CHD) in fetuses. METHODS: G-banding karyotype analysis and next-generation sequencing (NGS) technology were performed on cord blood samples derived from 36 fetuses with CHD. Pathological implication of the CNVs was explored through comparison against the International Genomic Polymorphism Database (http://www.ebi.ac.uk/dgva/), Phenotype Database (http://decipher...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28768602/completing-the-puzzle-the-search-for-pieces-in-the-understanding-of-psychosis-risk-in-22q11-2-deletion-syndrome
#18
Stephen R Hooper, Vandana Shashi
No abstract text is available yet for this article.
July 30, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28761808/machine-learning-classification-of-22q11-2-deletion-syndrome-a-diffusion-tensor-imaging-study
#19
Daniel S Tylee, Zora Kikinis, Thomas P Quinn, Kevin M Antshel, Wanda Fremont, Muhammad A Tahir, Anni Zhu, Xue Gong, Stephen J Glatt, Ioana L Coman, Martha E Shenton, Wendy R Kates, Nikos Makris
Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic neurodevelopmental syndrome that has been studied intensively in order to understand relationships between the genetic microdeletion, brain development, cognitive function, and the emergence of psychiatric symptoms. White matter microstructural abnormalities identified using diffusion tensor imaging methods have been reported to affect a variety of neuroanatomical tracts in 22q11.2DS. In the present study, we sought to combine two discovery-based approaches: (1) white matter query language was used to parcellate the brain's white matter into tracts connecting pairs of 34, bilateral cortical regions and (2) the diffusion imaging characteristics of the resulting tracts were analyzed using a machine-learning method called support vector machine in order to optimize the selection of a set of imaging features that maximally discriminated 22q11...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28761081/a-neurogenetic-model-for-the-study-of-schizophrenia-spectrum-disorders-the-international-22q11-2-deletion-syndrome-brain-behavior-consortium
#20
R E Gur, A S Bassett, D M McDonald-McGinn, C E Bearden, E Chow, B S Emanuel, M Owen, A Swillen, M Van den Bree, J Vermeesch, J A S Vorstman, S Warren, T Lehner, B Morrow
Rare copy number variants contribute significantly to the risk for schizophrenia, with the 22q11.2 locus consistently implicated. Individuals with the 22q11.2 deletion syndrome (22q11DS) have an estimated 25-fold increased risk for schizophrenia spectrum disorders, compared to individuals in the general population. The International 22q11DS Brain Behavior Consortium is examining this highly informative neurogenetic syndrome phenotypically and genomically. Here we detail the procedures of the effort to characterize the neuropsychiatric and neurobehavioral phenotypes associated with 22q11DS, focusing on schizophrenia and subthreshold expression of psychosis...
August 1, 2017: Molecular Psychiatry
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