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https://www.readbyqxmd.com/read/29190125/mitotic-instability-in-triploid-and-tetraploid-one-year-old-eastern-oyster-crassostrea-virginica-assessed-by-cytogenetic-and-flow-cytometry-techniques
#1
Joana Teixeira Sousa, Standish Allen, Brittany M Wolfe, Jessica Moss Small
For commercial oyster aquaculture, triploidy has significant advantages. To produce triploids, the principal technology uses diploid x tetraploid crosses. The development of tetraploid brood stock for this purpose has been successful, but as more is understood about tetraploids, it seems clear that chromosome instability is a principal feature in oysters. This paper is a continuation of work to investigate chromosome instability in polyploid Crassostrea virginica. We established families between tetraploids - apparently stable (non-mosaic) and unstable (mosaic) - and normal reference diploids, creating triploid groups, as well as tetraploids between mosaic and non-mosaic tetraploids...
November 30, 2017: Genome Génome / Conseil National de Recherches Canada
https://www.readbyqxmd.com/read/29188617/-snp-array-analysis-of-three-cases-with-partial-21q-trisomy
#2
Lili Zhou, Chong Chen, Zhaoke Zheng, Hao Wu, Fanni Xie, Xiaoling Lin, Yanbao Xiang, Xueqin Xu, Shaohua Tang
OBJECTIVE: To analyze three cases with partial 21q trisomy, and correlate their genotypes with phenotypes. METHODS: G-banding chromosomal analysis and single nucleotide polymorphism (SNP array) were performed for the three cases and their parents. RESULTS: SNP array has detected partial 21q trisomy in three cases and one mother, with variable size and location of the duplications. Case 1 harbored a 12.35 Mb duplication at 21q22.11q22.3, which spanned the Down syndrome critical region...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29059452/first-trimester-crown-rump-length-and-risk-of-chromosomal-aberrations-a-systematic-review-and-meta-analysis
#3
Lena Sagi-Dain, Amir Peleg, Shlomi Sagi
Importance: Lower than expected first-trimester crown-rump length (CRL) is a common sonographic finding, usually leading to reassessment of gestational age. Objective: The aim of this study was to perform a meta-analysis defining the risk of chromosomal aberrations in pregnancies with decreased first-trimester CRL. Evidence Acquisition: A search was conducted by a research librarian in 5 databases, with no time or language restrictions. Original researches examining the risk of chromosomal aberrations in pregnancies with low CRL were selected...
October 2017: Obstetrical & Gynecological Survey
https://www.readbyqxmd.com/read/29039167/-single-nucleotide-polymorphism-array-in-genetic-analysis-of-chorionic-villi-from-early-spontaneous-miscarriages
#4
Yixi Sun, Yuqin Luo, Yeqing Qian, Minyue Dong, Fan Jin
OBJECTIVE: To assess the clinical application of single nucleotide polymorphism (SNP)-array in detecting abnormal chromosome karyotypes of chorionic villi from early spontaneous abortuses. METHODS: A total of 861 chorionic villus samples from unexplained early spontaneous abortion were collected from Women's Hospital, Zhejiang University School of Medicine during October 2013 and June 2016, and SNP-array was performed to detect genome-wide DNA copy number variants...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29025247/molecular-and-histological-characteristics-of-early-triploid-and-partial-molar-pregnancies
#5
Katerina Kubelka-Sabit, Dzengis Jasar, Vanja Filipovski, Gorgi Bozinovski, Dijana Plaseska-Karanfilska
Molar pregnancy has the highest incidence of all gestational trophoblastic diseases. This is a heterogeneous group of diseases, composed of precancerous lesions and gestational trophoblastic tumours. The hydatidiform mole is characterised by varying degrees of proliferation of syncytiotrophoblastic and cytotrophoblastic cells and stromal oedema. Based on established morphological and cytogenetic criteria, molar pregnancy is divided into partial and complete. The risk of persistent trophoblastic disease is higher in complete moles compared with partial moles...
2017: Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists
https://www.readbyqxmd.com/read/29024088/parental-genome-dosage-effects-on-the-transcriptome-of-f1-hybrid-triploid-embryos-of-arabidopsis-thaliana
#6
Antoine Fort, Reetu Tuteja, Martin Braud, Peter C McKeown, Charles Spillane
Genomic imprinting in the seed endosperm could be due to unequal parental genome contribution effects in triploid endosperm tissue that trigger parent-of-origin specific activation and/or silencing of loci prone to genomic imprinting. To determine whether genomic imprinting is triggered by unequal parental genome contribution effects, we generated a whole-genome transcriptome dataset of F1 hybrid triploid embryos (as mimics of F1 hybrid triploid endosperm). For the vast majority of genes, the parental contributions to their expression levels in the F1 triploid hybrid embryos follows a biallelic and linear expression pattern...
October 10, 2017: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/29017575/evidence-for-viable-and-stable-triploid-trypanosoma-congolense-parasites
#7
Eliane Tihon, Hideo Imamura, Jean-Claude Dujardin, Jan Van Den Abbeele
BACKGROUND: Recent whole genome sequencing (WGS) analysis identified a viable triploid strain of Trypanosoma congolense. This triploid strain BANANCL2 was a clone of the field isolate BANAN/83/CRTRA/64 that was collected from cattle in Burkina Faso in 1983. RESULTS: We demonstrated the viability and stability of triploidy throughout the complete life-cycle of the parasite by infecting tsetse flies with the triploid clone BANANCL2. Proboscis-positive tsetse flies efficiently transmitted the parasites to mice resulting in systemic infections...
October 10, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/28882988/autosomal-trisomy-and-triploidy-are-corrected-during-female-meiosis-in-caenorhabditis-elegans
#8
Elizabeth Vargas, Karen McNally, Jacob A Friedman, Daniel B Cortes, David Y Wang, Ian F Korf, Francis J McNally
Trisomy and triploidy, defined as the presence of a third copy of one or all chromosomes, respectively, are deleterious in many species including humans. Previous studies have demonstrated that Caenorhabditis elegans with a third copy of the X chromosome are viable and fertile. However, the extra X chromosome was shown to preferentially segregate into the first polar body during oocyte meiosis to produce a higher frequency of euploid offspring than would be generated by random segregation. Here, we demonstrate that extra autosomes are preferentially eliminated by triploid C...
November 2017: Genetics
https://www.readbyqxmd.com/read/28864017/maternal-grb10-microdeletion-is-a-novel-cause-of-cystic-placenta-spectrum-of-genomic-changes-in-the-etiology-of-enlarged-cystic-placenta
#9
Urvashi Surti, Svetlana Yatsenko, Jie Hu, Daniel Bellissimo, W Tony Parks, Lori Hoffner
INTRODUCTION: The genetics and pathology of diploid complete and triploid partial hydatidiform moles have been well established. Enlarged cystic placenta often indicates an underlying etiology and is frequently associated with adverse pregnancy outcome. Several imprinted genes are strongly expressed in placental tissues and essential for normal placental growth and development. Disruption of these imprinted genes can lead to abnormal placental pathology and placental stunting or overgrowth...
September 2017: Placenta
https://www.readbyqxmd.com/read/28807814/development-of-a-chromosomal-microarray-test-for-the-detection-of-abnormalities-in-formalin-fixed-paraffin-embedded-products-of-conception-specimens
#10
Troy J Gliem, Umut Aypar
Testing the products of conception (POCs) provides information about the cause of fetal loss and helps determine the recurrence risk of future losses and chromosome abnormalities in subsequent pregnancies. Historically, the Mayo Clinic Cytogenetics Laboratory performed targeted fluorescent in situ hybridization (FISH) testing to identify aneuploidy of only certain chromosomes in formalin-fixed, paraffin-embedded (FFPE) POC samples. Chromosomal microarray studies using the Affymetrix OncoScan FFPE Assay can detect copy number changes across the genome...
August 12, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28790549/genetic-counseling-and-prenatal-diagnosis-of-triploidy-during-the-second-trimester-of-pregnancy
#11
Milenko Kolarski, Begzudin Ahmetovic, Maja Beres, Radomir Topic, Vedran Nikic, Ivana Kavecan, Semin Sabic
INTRODUCTION: Triploidy is a lethal chromosomal numeric abnormality, characterized on extra haploid set of chromosomes. It occurs in 2 to 3% of conceptuses and accounts for approximately 20% of chromosomally abnormal first-trimester miscarriages. As such, triploidy is estimated to occur in 1 of 3,500 pregnancies at 12 weeks', 1 in 30,000 at 16 weeks', and 1 in 250,000 at 20 weeks' gestation. CASE REPORT: We present a case of second-trimester triploidy diagnosed prenataly at our center...
April 2017: Medical Archives
https://www.readbyqxmd.com/read/28790105/impact-of-cytogenetic-abnormalities-in-adults-with-ph-negative-b-cell-precursor-acute-lymphoblastic-leukemia
#12
Marina Lafage-Pochitaloff, Laurence Baranger, Mathilde Hunault, Wendy Cuccuini, Christine Lefebvre, Audrey Bidet, Isabelle Tigaud, Virginie Eclache, Eric Delabesse, Chrystèle Bilhou-Nabéra, Christine Terré, Elise Chapiro, Nathalie Gachard, Marie-Joelle Mozziconacci, Geneviève Ameye, Sarah Porter, Nathalie Grardel, Marie C Béné, Yves Chalandon, Carlos Graux, Françoise Huguet, Véronique Lhéritier, Norbert Ifrah, Hervé Dombret
Multiple cytogenetic subgroups have been described in adult Philadelphia chromosome (Ph)-negative B-cell precursor (BCP) acute lymphoblastic leukemia (ALL), often comprising small numbers of patients. In this study, we aimed to reassess the prognostic value of cytogenetic abnormalities in a large series of 617 adult patients with Ph-negative BCP-ALL (median age, 38 years), treated in the intensified Group for Research on Adult Acute Lymphoblastic Leukemia (GRAALL)-2003/2005 trials. Combined data from karyotype, DNA index, fluorescence in situ hybridization, and polymerase chain reaction screening for relevant abnormalities were centrally reviewed and were informative in 542 cases (88%), allowing classification in 10 exclusive primary cytogenetic subgroups and in secondary subgroups, including complex and monosomal karyotypes...
October 19, 2017: Blood
https://www.readbyqxmd.com/read/28760128/analysis-of-musculoskeletal-dysmorphic-abnormalities-of-20-fetuses
#13
Mehmet Nuri Konya, Muhsin Elmas, Çiğdem Özdemir
OBJECTIVES: This study aims to report rates of skeletal abnormalities and their risk factors in light of information obtained in a fetal autopsy series. PATIENTS AND METHODS: The study included 20 fetuses (11 males, 8 females and 1 ambiguous genitalia; mean age 19.3±4.0 weeks; range 16 to 32 week) who underwent autopsy in our hospital between January 2013 and March 2015. Fetuses were systematically classified according to age, gender, family history, abortus week, abortus type, and extremity and organ abnormalities...
August 2017: Eklem Hastalıkları Ve Cerrahisi, Joint Diseases & related Surgery
https://www.readbyqxmd.com/read/28730668/recurrent-triploid-digynic-conceptions-and-mature-ovarian-teratomas-are-they-different-manifestations-of-the-same-genetic-defect
#14
Yassemine Khawajkie, William Buckett, Ngoc Minh Phuong Nguyen, Nawel Mechtouf, Asangla Ao, Jocelyne Arseneau, Rima Slim
Miscarriages affect 15% of clinically recognized pregnancies. Recurrent miscarriage (RM) is defined by the occurrence of at least two consecutive pregnancy losses and affects 1%-5% of couples trying to conceive. In an attempt to categorize patients with RM and identify the mechanisms leading to their miscarriages, we first used flow cytometry to assess the ploidy of 93 products of conception (POCs) from 53 patients with RM (≥3 miscarriages). We identified a single patient with four triploid POCs. We then used fluorescent in situ hybridization to confirm the triploidies and fluorescent microsatellite genotyping with distal and pericentromeric markers to determine their parental origin and the mechanisms leading to their formation...
July 21, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28723764/increased-nuchal-translucency-in-fetuses-with-a-normal-karyotype-diagnosis-and-management-an-observational-study
#15
Demetra Socolov, Razvan Socolov, Vlad Eusebiu Gorduza, Tudor Butureanu, Ruxandra Stanculescu, Alexandru Carauleanu, Ioana Pavaleanu
The use of nuchal translucency (NT) in 1992 by Nicolaides et al was a major breakthrough in screening for chromosomal aneuploidies at the end of the first trimester. However, pathological conditions other than chromosomal aneuploidies are also associated with increased NT, which can also be detected in normal fetuses. This study sought to evaluate the causes of this ultrasound sign in a group of patients from Iasi, Romania.During the decade-long study period, there were 71 certified cases involving increased NT; the patients in these cases underwent diagnostic amniocentesis and karyotyping...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28662500/overview-of-chromosome-abnormalities-in-first-trimester-miscarriages-a-series-of-1-011-consecutive-chorionic-villi-sample-karyotypes
#16
Anna Soler, Carme Morales, Irene Mademont-Soler, Ester Margarit, Antoni Borrell, Virginia Borobio, Miriam Muñoz, Aurora Sánchez
In order to contribute to the knowledge of type and frequency of chromosome abnormalities in early pregnancy losses, we analyzed the cytogenetic results from a large series of first trimester miscarriages, using a diagnostic approach with a high success rate and no maternal contamination. A total of 1,119 consecutive chorionic villi samples were obtained before evacuation, and karyotypes were prepared after short-term culture (STC). In 603 samples, a long-term culture (LTC) was also performed. The overall and individual frequencies of the different types of chromosome abnormalities were established, including placental mosaicisms, and their relationship with maternal age and gestational weeks was assessed...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28573747/triploidy-variability-of-sonographic-phenotypes
#17
Diana Massalska, Julia Bijok, Alicja Ilnicka, Grzegorz Jakiel, Tomasz Roszkowski
OBJECTIVES: To analyze sonographic abnormalities in triploid pregnancies and assess the usefulness of the classification proposed by McFadden and Kalousek for prenatal sonographic assessment of triploid fetuses. METHODS: We conducted a retrospective analysis of the sonographic features in a series of 67 triploid fetuses evaluated between 11 and 30 weeks of gestation in a single referral center between 1997 and 2015. RESULTS: Non-specific structural fetal defects were visualized in the majority of fetuses (61...
June 2, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28409863/the-influence-of-snp-based-chromosomal-microarray-and-nipt-on-the-diagnostic-yield-in-10-000-fetuses-with-and-without-fetal-ultrasound-anomalies
#18
Malgorzata I Srebniak, Maarten F C M Knapen, Marike Polak, Marieke Joosten, Karin E M Diderich, Lutgarde C P Govaerts, Marjan Boter, Joan N R Kromosoeto, Daniella Aloysia C M van Hassel, Gido Huijbregts, Wilfred F J van IJcken, Roger Heydanus, Anneke Dijkman, Toon Toolenaar, Femke A T de Vries, Jeroen Knijnenburg, Attie T J I Go, Robert-Jan H Galjaard, Diane Van Opstal
Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and noninvasive prenatal testing (NIPT) on the diagnostic yield and the number of invasive tests in our center. The frequency of pathogenic fetal unbalanced chromosome aberrations was studied in 10,005 cases referred for prenatal testing in 2009-2015. Chromosomal SNP microarray analysis replaced karyotyping in all invasively tested pregnancies and since 2014 a choice between NIPT and diagnostic testing with microarray was offered to women with an increased risk for common aneuploidy...
July 2017: Human Mutation
https://www.readbyqxmd.com/read/28399816/ploidy-elicits-a-whole-genome-dosage-effect-growth-of-triploid-atlantic-salmon-is-linked-to-the-genetic-origin-of-the-second-maternal-chromosome-set
#19
A C Harvey, P G Fjelldal, M F Solberg, T Hansen, K A Glover
BACKGROUND: The Atlantic salmon aquaculture industry is investigating the feasibility of using sterile triploids to mitigate genetic interactions with wild conspecifics, however, studies investigating diploid and triploid performance often show contrasting results. Studies have identified dosage and dosage-compensation effects for gene expression between triploid and diploid salmonids, but no study has investigated how ploidy and parent-origin effects interact on a polygenic trait in divergent lines of Atlantic salmon (i...
April 11, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28396697/efficient-and-cost-effective-genetic-analysis-of-products-of-conception-and-fetal-tissues-using-a-qf-pcr-array-cgh-strategy-five-years-of-data
#20
Celia Donaghue, Nada Davies, Joo Wook Ahn, Helen Thomas, Caroline Mackie Ogilvie, Kathy Mann
BACKGROUND: Traditional testing of miscarriage products involved culture of tissue followed by G-banded chromosome analysis; this approach has a high failure rate, is labour intensive and has a resolution of around 10 Mb. G-banded chromosome analysis has been replaced by molecular techniques in some laboratories; we previously introduced a QF-PCR/MLPA testing strategy in 2007. To improve diagnostic yield and efficiency we have now updated our testing strategy to a more comprehensive QF-PCR assay followed by array CGH...
2017: Molecular Cytogenetics
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