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https://www.readbyqxmd.com/read/29436713/when-ultrasound-anomalies-are-present-an-estimation-of-the-frequency-of-chromosome-abnormalities-not-detected-by-cell-free-dna-aneuploidy-screens
#1
Rebecca M Reimers, Heather Mason-Suares, Sarah E Little, Bryann Bromley, Emily S Reiff, Lori J Dobson, Louise Wilkins-Haug
OBJECTIVES: This study characterizes cytogenetic abnormalities with ultrasound findings to refine counseling following negative cell-free DNA (cfDNA). METHODS: A retrospective cohort of pregnancies with chromosome abnormalities and ultrasound findings was examined to determine the residual risk following negative cfDNA. Cytogenetic data was categorized as cfDNA detectable for aneuploidies of chromosomes 13, 18, 21, X, or Y or non-cfDNA detectable for other chromosome abnormalities...
February 13, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29435489/the-use-of-ultrasound-as-a-potential-adjunct-to-cell-free-fetal-dna-screening-for-aneuploidy-at-weill-cornell-medical-college-new-york-usa
#2
Jessica Scholl, Stephen Chasen
Objective To evaluate the utility of ultrasound in identifying fetuses with uncommon chromosomal abnormalities that would be considered not detectable by cell-free fetal deoxyribonucleic acid (cfDNA). Study Design We performed a retrospective study of fetuses with chromosomal abnormalities that would be undetectable by cfDNA, who underwent an 11- to 14-week ultrasound from 2006 to 2016. Results There were 43 pregnancies included. First-trimester ultrasound revealed a fetal abnormality in 19 (44.2%) cases, of which 13 (30...
January 2018: Surgery Journal
https://www.readbyqxmd.com/read/29416566/can-telomere-shortening-be-the-main-indicator-of-non-viable-fetus-elimination
#3
Nataliya Huleyuk, Iryna Tkach, Danuta Zastavna, Miroslaw Tyrka
Background: Telomeres are transcriptionally inactive genomic areas, which, if shortened, are associated with pathological processes, unsuccessful fertilization, aging, and death. Telomere dysfunction has also been linked to chromosomal rearrangements and genomic instability. The role of telomeres in postnatal life has been extensively studied and discussed both in physiological as well as in pathological processes. However, the role of telomere length in prenatal development is still poorly understood, and mainly concerns the preimplantation stage...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29377646/stillborn-infants-associated-malformations
#4
Lewis B Holmes, Hanah Nasri, Rebecca Beroukhim, Anne-Therese Hunt, Drucilla J Roberts, M Hassan Toufaily, Marie-Noel Westgate
BACKGROUND: Stillbirth, defined as death of a fetus in utero after 20 weeks of gestation, occurs in 1 to 2% of pregnancies in the United States. Many of these stillborn infants have associated malformations, including chromosome abnormalities, neural tube defects, and malformation syndromes. Other causes are abnormalities of the placenta and maternal conditions, such as pre-eclampsia and obesity. A consecutive sample of malformed stillborn infants can establish the relative frequency and severity of the associated malformations...
January 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29366772/validation-of-a-targeted-next-generation-sequencing-based-comprehensive-chromosome-screening-platform-for-detection-of-triploidy-in-human-blastocysts
#5
Diego Marin, Rebekah Zimmerman, Xin Tao, Yiping Zhan, Richard T Scott, Nathan R Treff
Triploidy accounts for ~2% of natural pregnancies and 15% of cytogenetically abnormal miscarriages. This study aimed to validate triploidy detection in human blastocysts, its frequency and parental origin using genotyping data generated in parallel with chromosome copy number analysis by a targeted next generation sequencing (tNGS)-based comprehensive chromosome screening platform. Phase 1: diploid and triploid control samples were blinded, sequenced by tNGS and karyotype predictions compared for accuracy. Phase 2: tNGS was used to calculate the frequency of triploidy in 18,791 human blastocysts from trophectoderm (TE) biopsies...
January 2, 2018: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29338474/subarachnoid-space-diameter-in-chromosomally-abnormal-fetuses-at-11-13-weeks-gestation
#6
Carolina Ferreira, Ana Lidia Rouxinol-Dias, Teresa Loureiro, Kypros Nicolaides
OBJECTIVES: To examine the subarachnoid space diameters in chromosomally abnormal fetuses at 11-13 weeks' gestation. METHODS: Stored three-dimensional (3D) ultrasound volumes of the fetal head at 11-13 weeks' gestation from 407 euploid and 88 chromosomally abnormal fetuses (trisomy 21, n = 40; trisomy 18, n = 19; trisomy 13, n = 7; triploidy, n = 14; Turner syndrome, n = 8) were analyzed. The subarachnoid space diameters, measured in the sagittal and transverse planes of the fetal head, in relation to biparietal diameter (BPD) in each group of aneuploidies was compared to that in euploid fetuses...
January 16, 2018: Journal of Maternal-fetal & Neonatal Medicine
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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