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Trisomy 21

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https://www.readbyqxmd.com/read/29049012/transcriptome-profiling-uncovers-potential-common-mechanisms-in-fetal-trisomies-18-and-21
#1
Marija Volk, Aleš Maver, Alenka Hodžić, Luca Lovrečić, Borut Peterlin
Human trisomies have recently been investigated using transcriptomics approaches to identify the gene expression (GE) signatures characteristic of each of these specific aneuploidy conditions. We hypothesized that the viability of cells with gross genomic imbalances might be associated with the activation of resilience mechanisms that are common to different trisomies and that are reflected by specific shared GE patterns. We report in this article our microarray GE analyses of amniocytes from fetuses with viable trisomy conditions, trisomy 21 or trisomy 18, to detect such common expression signatures...
October 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29048729/beyond-down-syndrome-phenotype-paternally-derived-isodicentric-chromosome-21-with-partial-monosomy-21q22-3
#2
Manesha Putra, Urvashi Surti, Jie Hu, Deana Steele, Michele Clemens, Devereux N Saller, Svetlana A Yatsenko, Aleksandar Rajkovic
Inverted isodicentric chromosome 21 is a rare form of chromosomal rearrangement that may result in trisomy 21; sometimes this rearrangement may also lead to segmental monosomy of the terminal long arm of chromosome 21. In this report, we describe the prenatal diagnosis and neonatal follow-up of a child with a paternally derived, de novo isodicentric chromosome 21 and a concurrent ∼1.2 Mb deletion of the 21q22.3 region [46,XX,idic(21)(q22.3)]. This child presented with unusual phenotype of Down syndrome and additional defects including esophageal atresia and tethered cord syndrome...
October 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29039166/-detection-of-cell-free-fetal-dna-in-maternal-plasma-for-noninvasive-prenatal-screening-of-fetal-chromosomal-aneuploidies-in-women-of-advanced-maternal-age
#3
Hui Zhu, Zhengyou Miao, Yeqing Qian, Hongge Li, Jinglei Jin, Jing He, Minyue Dong
OBJECTIVE: To evaluate the efficiency of cell-free fetal DNA detection as a non-invasive prenatal screening (NIPS) method for women of advanced maternal age. METHODS: A total of 10 584 women of advanced maternal age who received NIPS were recruited from the Women's Hospital, Zhejiang University School of Medicine and Jiaxing Maternal and Child Health Hospital during February 2015 and September 2016. The pregnancy outcome was followed-up. The sensitivity, specificity, positive and negative predictive value of fetal chromosomal aneuploidy detected in NIPS were analyzed...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29037564/prenatal-diagnosis-of-low-level-mosaicism-for-trisomy-21-with-rare-karyotype-detected-by-noninvasive-prenatal-testing
#4
Hong Wu, Zong-Yu Miao, Xiao-Fei Hou, Xiao-Yan Liu, Hui-Yuan Shao
No abstract text is available yet for this article.
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29037558/monozygotic-twins-discordant-for-trisomy-21-discussion-of-etiological-events-involved
#5
Yao-Lung Chang, Wu-Pei Yi, An-Shine Chao, Kuan-Ju Chen, Po-Jen Cheng, Tzu-Hao Wang, Shuenn-Dyh Chang
OBJECTIVE: To elucidate the etiologies of discordant trisomy 21 in monozygotic twin pregnancy. CASE REPORT: A monochorionic diamniotic twin pregnancy with hydrops and cleft lip (twin 1) found in one fetus presented at gestational age of 17 weeks. Amniotic fluid karyotyping showed nonmosaic trisomy 21 in twin 1 (47, XY, +21 [20]) and a normal karyotype in twin 2 (46, XY [20]). Short tandem repeat (STR) polymorphism markers revealed that the two fetuses were monozygotic, and the two chromosomes 21 were maternal isodisomy in the trisomy fetus...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29037343/the-prevalence-of-selected-major-birth-defects-in-the-united-states
#6
REVIEW
Russell S Kirby
Although collectively they are fairly common, birth defects receive limited attention as a group of outcomes either clinically or from a public health perspective. This article provides an overview of the prevalence, trends and selected socio-demographic risk factors for several major birth defects, including neural tube defects, cranio-facial anomalies, congenital heart defects, trisomies 13, 18, and 21, and gastroschisis and omphalocele. Attention should focus on strengthening existing registries, creating birth defects surveillance programs in states that do not have them, and standardizing registry methods so that broadly national data to monitor these trends are available...
October 2017: Seminars in Perinatology
https://www.readbyqxmd.com/read/29036772/non-invasive-prenatal-testing
#7
James Harraway
BACKGROUND: Non-invasive prenatal testing (NIPT), also known as cell-free DNA testing and non-invasive prenatal screening (NIPS), is an important addition to the range of screening tests for fetal chromosomal abnormalities. For trisomy 21 in particular, NIPT is superior to other screening modalities. However, NIPT has limitations and complexities that requesting clinicians and their patients should understand. OBJECTIVE: This review article will briefly describe the technical basis of NIPT assays and compare the performance characteristics of NIPT with existing screening tests...
October 2017: Australian Family Physician
https://www.readbyqxmd.com/read/29036626/detection-of-an-underlying-22q11-2-duplication-in-a-female-neonate-with-trisomy-18
#8
Donald E Turbiville, Hai Wu, Jianli Dong
Current guidelines indicate that in patients with developmental disabilities or congenital anomalies, chromosomal microarray (CMA) is a first-tier diagnostic test. However, for patients with obvious chromosomal syndromes such as trisomy 13, 18, and 21, G-banded karyotyping is still recommended over CMA for establishing a diagnosis. In the case presented herein, a female neonate was suspected of having trisomy 18 based on pre- and postnatal evaluations. Karyotyping was requested but not performed due to insufficient cell growth; Interphase fluorescence in situ hybridization (i-FISH) found an extra copy of chromosome 18...
September 23, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/29034302/comparison-of-two-immunoassay-systems-for-hcg%C3%AE-and-papp-a-in-prenatal-screening-for-trisomy-21-18-and-13-in-the-first-trimester
#9
Anna Elise Engell, Elin Rebecka Carlsson, Finn Stener Jørgensen, Steen Sørensen
OBJECTIVES: The biochemical serum markers free β-human chorionic gonadotropin (hCGβ) and pregnancy associated plasma protein A (PAPP-A), used in screening for trisomy 21 (T21), trisomy 18 (T18), and trisomy 13 (T13) during the first trimester, can be measured on different laboratory instruments e.g. Kryptor (Brahms) and Cobas (Roche). We compared the performance of these two analytical instruments when used for first trimester combined testing. DESIGN AND METHODS: Serum samples from 944 singleton pregnant women attending for first trimester combined testing were routinely assayed for hCGβ and PAPP-A on Kryptor, and re-analyzed on Cobas...
December 2017: Pract Lab Med
https://www.readbyqxmd.com/read/29032050/positive-predictive-value-estimates-for-cell-free-noninvasive-prenatal-screening-from-data-of-a-large-referral-genetic-diagnostic-laboratory
#10
Andrea K Petersen, Sau Wai Cheung, Janice L Smith, Weimin Bi, Patricia A Ward, Sandra Peacock, Alicia Braxton, Ignatia B van den Veyver, Amy M Breman
BACKGROUND: Since its debut in 2011, cell-free fetal DNA (cffDNA) screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this screening tool, both for the originally included common autosomal and sex-chromosomal aneuploidies as well as the more recently added chromosomal microdeletion syndromes, has lagged behind. Thus, there is a continued need to educate clinicians and patients about the current benefits and limitations of this screening tool to inform pre and post-test counseling, pre/perinatal decision making and medical risk assessment/management...
October 12, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29025581/clonal-chromosomal-aberrations-in-philadelphia-negative-cells-such-as-monosomy-7-and-trisomy-8-may-persist-for-years-with-no-impact-on-the-long-term-outcome-in-patients-with-chronic-myeloid-leukemia
#11
Ewa M Wasilewska, Barbara Panasiuk, Michał Gniot, Anna Sawicka, Katarzyna Kozłowska, Krzysztof Lewandowski, Janusz Kłoczko, Alina T Midro
The appearance of clonal chromosomal aberrations in Philadelphia negative cells (CCA/Ph-) during the treatment of chronic myeloid leukemia (CML) was recently confirmed. Importance of these findings has not been clearly defined. We present data on the time of appearance, persistence, size of the CCA/Ph- clone in terms of drugs used and hematological, cytogenetic and molecular response rates. The focus was on the peripheral blood cytopenias and myelodysplastic changes in the bone marrow microscopic evaluation...
October 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29024868/introduction-of-non-invasive-prenatal-testing-as-a-first-tier-aneuploidy-screening-test-a-survey-among-dutch-midwives-about-their-role-as-counsellors
#12
Linda Martin, Janneke T Gitsels-van der Wal, Marjon A de Boer, Meredith Vanstone, Lidewij Henneman
In 2014, non-invasive prenatal testing (NIPT) for trisomies 21, 18 and 13 was added to the Dutch prenatal screening program as part of the TRIDENT study. Most (85%) pregnant Dutch women are counselled for prenatal aneuploidy screening by primary care midwives. This will remain when NIPT is implemented as a first-tier screening test. We therefore investigated midwife counsellors': 1) Knowledge about NIPT; 2) Attitudes towards NIPT as first-tier screening test; and 3) Experiences with informing clients about NIPT...
September 24, 2017: Midwifery
https://www.readbyqxmd.com/read/28993310/rodent-models-in-down-syndrome-research-impact-and-future-opportunities
#13
REVIEW
Yann Herault, Jean M Delabar, Elizabeth M C Fisher, Victor L J Tybulewicz, Eugene Yu, Veronique Brault
Down syndrome is caused by trisomy of chromosome 21. To date, a multiplicity of mouse models with Down-syndrome-related features has been developed to understand this complex human chromosomal disorder. These mouse models have been important for determining genotype-phenotype relationships and identification of dosage-sensitive genes involved in the pathophysiology of the condition, and in exploring the impact of the additional chromosome on the whole genome. Mouse models of Down syndrome have also been used to test therapeutic strategies...
October 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28993272/gabaergic-over-inhibition-a-promising-hypothesis-for-cognitive-deficits-in-down-syndrome
#14
REVIEW
Javier Zorrilla de San Martin, Jean-Maurice Delabar, Alberto Bacci, Marie-Claude Potier
Down syndrome (DS), also known as trisomy 21, is the most common genetic cause of intellectual disability. It is also a model human disease for exploring consequences of gene dosage imbalance on complex phenotypes. Learning and memory impairments linked to intellectual disabilities in DS could result from synaptic plasticity deficits and excitatory-inhibitory alterations leading to changes in neuronal circuitry in the brain of affected individuals. Increasing number of studies in mouse and cellular models converge towards the assumption that excitatory-inhibitory imbalance occurs in DS, likely early during development...
October 6, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28990860/in-a-genomic-era-placental-pathology-still-holds-the-key-in-the-nondysmorphic-stillbirth
#15
Jamie Campbell, Kristy Armstrong, Nithiya Palaniappan, Eddy Maher, Mary Glancy, Mary Porteous, Kathryn J Mckenzie, Margaret J Evans
Objective To explore the relative utility of genetic testing in contrast to placental pathology in explaining causation of death in the structurally normal stillborn population. Methods A retrospective review of a structurally normal stillborn infant cohort in South East Scotland between 2011 and 2015, defined by death at or after 24 weeks of gestation. We reviewed pathology reports and collected demographic data on cases. This information was collated with genetic test results (quantitative fluorescent polymerase chain reaction and microarray analysis) and placental pathology to create a database for analysis...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28988799/dysfunction-of-autophagy-and-endosomal-lysosomal-pathways-roles-in-pathogenesis-of-down-syndrome-and-alzheimer-s-disease
#16
REVIEW
Daniel J Colacurcio, Anna Pensalfini, Ying Jiang, Ralph A Nixon
Individuals with Down syndrome (DS) have an increased risk of early-onset Alzheimer's Disease (AD), largely owing to a triplication of the APP gene, located on chromosome 21. In DS and AD, defects in endocytosis and lysosomal function appear at the earliest stages of disease development and progress to widespread failure of intraneuronal waste clearance, neuritic dystrophy and neuronal cell death. The same genetic factors that cause or increase AD risk are also direct causes of endosomal-lysosomal dysfunction, underscoring the essential partnership between this dysfunction and APP metabolites in AD pathogenesis...
October 6, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28981949/-result-of-prenatal-diagnosis-for-151-high-risk-women-by-noninvasive-prenatal-screening-based-on-high-throughput-sequencing
#17
Yifang Jia, Yan Zhang, Wanxiao Hao, Donghong Shi, Jinlai Meng, Heyong Zhao, Yan Lian, Luwen Xie, Xietong Wang
OBJECTIVE: To assess the value of combined fetal karyotyping and chromosomal microarray analysis (CMA) for the verification of high-risk pregnancy signaled by noninvasive prenatal screening (NIPS) based on high-throughput sequencing. METHODS: One hundred and fifty-one pregnant women with high risks for aneuploidies of chromosomes 13, 18, 21, X and Y or pathological copy number variations (CNVs) by NIPS were subjected to amniocytic karyotyping and CMA analysis. RESULTS: One hundred and forty-two women were found to have a high risk for fetal chromosomal aneuploidies, which included 83 cases of trisomy 21, 17 cases of trisomy 18, 2 cases of trisomy 13, and 40 cases of sex chromosome aneuploidies...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28977199/risk-factors-for-delayed-extubation-after-ventricular-septal-defect-closure-a-prospective-observational-study
#18
Divyakant Parmar, Ketav Lakhia, Pankaj Garg, Kartik Patel, Ritesh Shah, Jigar Surti, Jigar Panchal, Himani Pandya
OBJECTIVE: The objective of our study was to determine the feasibility of early extubation and to identify the risk factors for delayed extubation in pediatric patients operated for ventricular septal defect closure. METHODS: A prospective, observational study was carried out at our Institute. This study involved consecutive 135 patients undergoing ventricular septal defect closure. Patients were extubated if feasible within six hours after surgery. Based on duration of extubation, patients were divided two groups: Group 1= extubation time ≤ 6 hours, Group 2= extubation time >6 hours...
July 2017: Brazilian Journal of Cardiovascular Surgery
https://www.readbyqxmd.com/read/28970008/the-trpm2-ion-channel-contributes-to-cytokine-hyperproduction-in-a-mouse-model-of-down-syndrome
#19
Fabienne Gally, Deviyani M Rao, Carsten Schmitz, Kelley L Colvin, Michael E Yeager, Anne-Laure Perraud
Trisomy 21 (Down Syndrome, DS) is the most common chromosomal anomaly. Although DS is mostly perceived as affecting cognitive abilities and cardiac health, individuals with DS also exhibit dysregulated immune functions. Levels of pro-inflammatory cytokines are increased, but intrinsic alterations of innate immunity are understudied in DS. Furthermore, elevated Reactive Oxygen Species (ROS) are well documented in individuals with DS, further exacerbating inflammatory processes. Chronic inflammation and oxidative stress are often precursors of subsequent tissue destruction and pathologies, which affect a majority of persons with DS...
September 29, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28965985/dysfunctions-of-mitochondria-in-close-association-with-strong-perturbation-of-long-noncoding-rnas-expression-in-down-syndrome
#20
Jia-Jun Qiu, Yan-Na Liu, Zhao-Rui Ren, Jing-Bin Yan
Trisomy 21 is the most common chromosomal disorder and underlies Down syndrome. Epigenetics, such as DNA methylation and post-translational histone modifications, plays a vital role in Down syndrome. However, the functions of epigenetics-related long noncoding RNAs (lncRNAs), found to have an impact on neural diseases such as Alzheimer's disease, remain unknown in Down syndrome. In this study, we analyzed the RNA sequencing data from Down syndrome-induced pluripotent stem cells (iPSCs) and normal iPSCs. A large number of lncRNAs were identified differentially expressed in Down syndrome-iPSCs...
September 29, 2017: International Journal of Biochemistry & Cell Biology
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