Log in

Relevant bibliographies by topics / Chromosomal aneuploidies

Contents

Journal articles
Dissertations / Theses
Books
Book chapters
Conference papers

Academic literature on the topic 'Chromosomal aneuploidies'

Author: Grafiati

Published: 4 June 2021

Last updated: 5 February 2022

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the lists of relevant articles, books, theses, conference reports, and other scholarly sources on the topic 'Chromosomal aneuploidies.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Journal articles on the topic "Chromosomal aneuploidies"

1

Pieters, J. J. P. M., A. J. A. Kooper, A. Geurts van Kessel, D. D. M. Braat, and A. P. T. Smits. "Incidental Prenatal Diagnosis of Sex Chromosome Aneuploidies: Health, Behavior, and Fertility." ISRN Obstetrics and Gynecology 2011 (December 12, 2011): 1–10. http://dx.doi.org/10.5402/2011/807106.

Full text

Abstract:

Objective. To assess the diagnostic relevance of incidental prenatal findings of sex chromosome aneuploidies. Methods. We searched with medical subject headings (MeSHs) and keywords in Medline and the Cochrane Library and systematically screened publications on postnatally diagnosed sex chromosomal aneuploidies from 2006 to 2011 as well as publications on incidentally prenatally diagnosed sex chromosomal aneuploidies from 1980 to 2011. Results. Postnatally diagnosed sex chromosomal aneuploidies demonstrated three clinical relevant domains of abnormality: physical (22–100%), behavior (0–56%), a

APA, Harvard, Vancouver, ISO, and other styles

2

Vorsanova, Svetlana G., Alexei D. Kolotii, Ivan Y. Iourov, et al. "Evidence for High Frequency of Chromosomal Mosaicism in Spontaneous Abortions Revealed by Interphase FISH Analysis." Journal of Histochemistry & Cytochemistry 53, no. 3 (2005): 375–80. http://dx.doi.org/10.1369/jhc.4a6424.2005.

Full text

Abstract:

Numerical chromosomal imbalances are a common feature of spontaneous abortions. However, the incidence of mosaic forms of chromosomal abnormalities has not been evaluated. We have applied interphase multicolor fluorescence in situ hybridization using original DNA probes for chromosomes 1, 9, 13, 14, 15, 16, 18, 21, 22, X, and Y to study chromosomal abnormalities in 148 specimens of spontaneous abortions. We have detected chromosomal abnormalities in 89/148 (60.1%) of specimens. Among them, aneuploidy was detected in 74 samples (83.1%). In the remaining samples, polyploidy was detected. The mos

APA, Harvard, Vancouver, ISO, and other styles

3

Sheppard, Olivia, Frances K. Wiseman, Aarti Ruparelia, Victor L. J. Tybulewicz, and Elizabeth M. C. Fisher. "Mouse Models of Aneuploidy." Scientific World Journal 2012 (2012): 1–6. http://dx.doi.org/10.1100/2012/214078.

Full text

Abstract:

Abnormalities of chromosome copy number are called aneuploidies and make up a large health load on the human population. Many aneuploidies are lethal because the resulting abnormal gene dosage is highly deleterious. Nevertheless, some whole chromosome aneuploidies can lead to live births. Alterations in the copy number of sections of chromosomes, which are also known as segmental aneuploidies, are also associated with deleterious effects. Here we examine how aneuploidy of whole chromosomes and segmental aneuploidy of chromosomal regions are modeled in the mouse. These models provide a whole an

APA, Harvard, Vancouver, ISO, and other styles

4

Chai, Hongyan, Autumn DiAdamo, Brittany Grommisch, et al. "Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities." Medical Sciences 7, no. 2 (2019): 16. http://dx.doi.org/10.3390/medsci7020016.

Full text

Abstract:

Current prenatal genetic evaluation showed a significantly increase in non-invasive screening and the reduction of invasive diagnostic procedures. To evaluate the diagnostic efficacy on detecting common aneuploidies, structural chromosomal rearrangements, and pathogenic copy number variants (pCNV), we performed a retrospective analysis on a case series initially analyzed by aneuvysion fluorescence in situ hybridization (FISH) and karyotyping then followed by array comparative genomic hybridization (aCGH). Of the 386 cases retrieved from the past decade, common aneuploidies were detected in 137

APA, Harvard, Vancouver, ISO, and other styles

5

Bihunyak, T. V., Yu I. Bondarenko, O. O. Кulyanda, S. M. Charnosh, A. S. Sverstiuk, and K. O. Bihuniak. "CHROMOSOMAL DISEASES IN THE HUMAN PATHOLOGY." International Journal of Medicine and Medical Research 6, no. 1 (2020): 50–60. http://dx.doi.org/10.11603/ijmmr.2413-6077.2020.1.11501.

Full text

Abstract:

Background. Chromosomal diseases are the cause of 45-50 % of multiple birth defects. Basic research on mutations is performed using genomic technologies to identify a correlation between genotype and phenotype in aneuploidies and to understand its pathogenesis. Objective. The aim of the research is to study the etiology, pathogenesis of symptoms and diagnostics for patients with Down, Klinefelter, Turner syndromes and double aneuploidies by 21 and sex chromosomes. Methods. A literature review by the keywords “Down syndrome”, “Klinefelter syndrome”, “Turner syndrome”, “double aneupl

APA, Harvard, Vancouver, ISO, and other styles

6

Akutsu, Silvia Natsuko, Kazumasa Fujita, Keita Tomioka, Tatsuo Miyamoto, and Shinya Matsuura. "Applications of Genome Editing Technology in Research on Chromosome Aneuploidy Disorders." Cells 9, no. 1 (2020): 239. http://dx.doi.org/10.3390/cells9010239.

Full text

Abstract:

Chromosomal segregation errors in germ cells and early embryonic development underlie aneuploidies, which are numerical chromosomal abnormalities causing fetal absorption, developmental anomalies, and carcinogenesis. It has been considered that human aneuploidy disorders cannot be resolved by radical treatment. However, recent studies have demonstrated that aneuploidies can be rescued to a normal diploid state using genetic engineering in cultured cells. Here, we summarize a series of studies mainly applying genome editing to eliminate an extra copy of human chromosome 21, the cause of the mos

APA, Harvard, Vancouver, ISO, and other styles

7

Ebrahimian, Neda, Fatemeh Montazeri, Mohammad Reza Sadeghi, Seyed Mehdi Kalantar, Kambiz Gilany, and Mohannad Ali Khalili. "Reanalysis of discarded blastocysts for autosomal aneuploidy after sex selection in cleavage-stage embryos." Clinical and Experimental Reproductive Medicine 47, no. 4 (2020): 293–99. http://dx.doi.org/10.5653/cerm.2019.03426.

Full text

Abstract:

Objective: The goal of the present study was to investigate the rate of chromosomal aneuploidies in surplus embryos after sex determination at the cleavage stage. Then, the same chromosomal aneuploidies were evaluated in blastocysts after extended culture.Methods: Sixty-eight surplus embryos were biopsied at the cleavage stage and incubated for an additional 3 days to allow them to reach the blastocyst stage. The embryos were reanalyzed via fluorescence in situ hybridization (FISH) to examine eight chromosomes (13, 15, 16, 18, 21, 22, X, and Y) in both cleavage-stage embryos and blastocysts.Re

APA, Harvard, Vancouver, ISO, and other styles

8

Vicic, Ana, Vedrana Skaro, Petar Projic, Petra Korac, Romana Gjergja-Juraski, and Feodora Stipoljev. "Antenatal detection of chromosomal abnormalities combining QF-PCR and cytogenetic analysis." Molecular and experimental biology in medicine 3, no. 1 (2020): 34–43. http://dx.doi.org/10.33602/mebm.3.1.6.

Full text

Abstract:

Aim: To compare the diagnostic values and limitations of quantitative fluorescent polymerase chain reaction (QF-PCR) and conventional cytogenetic analysis in prenatal diagnosis of chromosomal abnormalities. Methods: A prospective study included simultaneous QF-PCR and cytogenetic analysis of 133 prenatal samples routinely obtained by amniocentesis or chorionic villus sampling (CVS). Additionally, QF-PCR analysis was performed on 14 tissue samples collected after termination of pregnancy (TOP) for which karyotyping could not be performed due to culture failure. Results: Among 133 analyzed prena

APA, Harvard, Vancouver, ISO, and other styles

9

Rush, Eric T., G. Bradley Schaefer, Warren G. Sanger, and Peter F. Coccia. "Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies." Cytogenetic and Genome Research 147, no. 1 (2015): 31–34. http://dx.doi.org/10.1159/000441585.

Full text

Abstract:

Sex chromosome aneuploidies range in incidence from rather common to exceedingly rare and have a variable phenotype. We report 2 patients with sex chromosome aneuploidies who developed severe aplastic anemia requiring treatment. The first patient had tetrasomy X (48,XXXX) and presented at 9 years of age, and the second patient had trisomy X (47,XXX) and presented at 5 years of age. Although aplastic anemia has been associated with other chromosomal abnormalities, sex chromosome abnormalities have not been traditionally considered a risk factor for this condition. A review of the literature rev

APA, Harvard, Vancouver, ISO, and other styles

10

Navratil, Rostislav, Jakub Horak, Miroslav Hornak, et al. "Concordance of various chromosomal errors among different parts of the embryo and the value of re-biopsy in embryos with segmental aneuploidies." Molecular Human Reproduction 26, no. 4 (2020): 269–76. http://dx.doi.org/10.1093/molehr/gaaa012.

Full text

Abstract:

Abstract Chromosomal mosaicism detected during preimplantation genetic testing for aneuploidy (PGT-A) and its impact on embryo implantation have been widely discussed, and healthy live births from mosaic embryos were reported by many groups. On the other hand, only very few studies have focused on segmental chromosome aneuploidies and their clinical impact. Eighty-nine embryos with various PGT-A results (trophectoderm 1: TE1) were re-analysed using a second trophectoderm biopsy (TE2) and the rest of the embryo (RE) for testing. Of 19 euploid TE1 biopsies, 18 were concordant across TE2 and RE.

APA, Harvard, Vancouver, ISO, and other styles

More sources

Dissertations / Theses on the topic "Chromosomal aneuploidies"

1

Zheng, Yun-Ling. "Rapid prenatal diagnosis of common fetal aneuploidies by fluorescence in situ hybridisation." Thesis, University of Cambridge, 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.318418.

Full text

APA, Harvard, Vancouver, ISO, and other styles

2

Mohaddes, Ardebili Seyed Mojtaba. "Optimisation of interphase fluorescence in situ hybridisation for detection of common aneuploidies." Thesis, Connect to e-thesis, 1996. http://theses.gla.ac.uk/692/.

Full text

Abstract:

Thesis (Ph.D.) - University of Glasgow, 1996.<br>Ph.D. thesis submitted to the Faculty of Medicine, Department of Division of Developmental Medicine, University of Glasgow, 1996. Includes bibliographical references: p. 118-132. Print version also available.

APA, Harvard, Vancouver, ISO, and other styles

3

Rutledge, Samuel Drew. "Investigating aneuploidy's role in cancer cell fitness under various conditions of stress." Thesis, Virginia Tech, 2015. http://hdl.handle.net/10919/56481.

Full text

Abstract:

The gain or loss of whole chromosomes, known as aneuploidy, is a distinguishing feature of cancer cells. The rapid gain or loss of hundreds of genes dramatically alters a cell's genomic landscape and is typically detrimental to cell survival under normal conditions. However, cancer cells display enhanced proliferation and overcome multiple conditions of stress, suggesting aneuploidy may increase cellular fitness. Furthermore, distinct patterns of aneuploidy are found in cancers from different anatomical sites. Despite these observations, scant research has sought to examine the role of aneuplo

APA, Harvard, Vancouver, ISO, and other styles

4

Dummontier-Da, Silva Corinne. "Diagnostic rapide des principales aneuploi͏̈dies chromosomiques par hybridation in situ sur amniocytes non cultivés." Montpellier 1, 1998. http://www.theses.fr/1998MON11094.

Full text

APA, Harvard, Vancouver, ISO, and other styles

5

Baumgart, Mario [Verfasser]. "Zytogenetische Untersuchungen zur Bestimmung der chromosomalen Aneuploidie in der Karzinogenese sowie für die Frühdiagnostik des Pankreaskarzinoms / Mario Baumgart." Kassel : Universitätsbibliothek Kassel, 2009. http://d-nb.info/1007325283/34.

Full text

APA, Harvard, Vancouver, ISO, and other styles

6

Kahlke, Nikolas Sebastian [Verfasser], and Karsten [Akademischer Betreuer] Held. "Alterskorrelationen und EntstehungsmechanismenX-chromosomaler Aneuploidien in Lymphozytenkulturen von 42 Patientinnen mit habituellen Aborten / Nikolas Sebastian Kahlke ; Betreuer: Karsten Held." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2018. http://d-nb.info/1156462339/34.

Full text

APA, Harvard, Vancouver, ISO, and other styles

7

Kahlke, Nikolas Sebastian Verfasser], and Karsten [Akademischer Betreuer] [Held. "Alterskorrelationen und EntstehungsmechanismenX-chromosomaler Aneuploidien in Lymphozytenkulturen von 42 Patientinnen mit habituellen Aborten / Nikolas Sebastian Kahlke ; Betreuer: Karsten Held." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2018. http://d-nb.info/1156462339/34.

Full text

APA, Harvard, Vancouver, ISO, and other styles

8

Moraes, Renata Wendel de. "Validação de teste de reação em cadeia da polimerase fluorescente quantitativa (QF-PCR) para detecção de aneuploidias fetais." Universidade de São Paulo, 2016. http://www.teses.usp.br/teses/disponiveis/5/5139/tde-07032017-143706/.

Full text

Abstract:

A reação em cadeia da polimerase fluorescente quantitativa (QF-PCR) é um método molecular de diagnóstico que se baseia na amplificação de pequenas sequências repetitivas do genoma (Short Tandem Repeats - STRs). Este método pode ser empregado para a detecção de aneuploidias durante a triagem pré-natal, porém, no Brasil, ainda não é utilizado nas instituições públicas. O objetivo do presente estudo foi avaliar a eficácia da QF-PCR em comparação com a citogenética na detecção de aneuploidias. Foram avaliadas 162 amostras de líquido amniótico de gestantes com risco fetal de aneuploidia aumentado.

APA, Harvard, Vancouver, ISO, and other styles

9

Bouftas, Nora. "Control of meiotic divisions in oocytes : a novel role for cyclin B3." Thesis, Sorbonne université, 2019. http://www.theses.fr/2019SORUS176.

Full text

Abstract:

La méiose est un processus très réglementé composé de deux divisions successives, la méiose I et II, qui doivent être complétées dans l’ordre pour obtenir des gamètes haploïdes avec le nombre correct de chromosomes. La méiose chez les femelles est un processus sujet aux erreurs, où les erreurs de ségrégation créent des gamètes aneuploïdes. De plus, l'incidence d'aneuploïdie augmente avec l'âge. Comprendre la régulation de la méiose chez les femelles mammifères est donc essentiel. Les divisions méiotiques sont régulées par les cyclines associées à leurs partenaires catalytiques, les Cdks. J'ai

APA, Harvard, Vancouver, ISO, and other styles

10

Chevret, Edith. "Ségrégations méiotiques des chromosomes sexuels chez les sujets 46,XY et chez les sujets porteurs d'anomalies numériques de ces chromosomes : analyse par hybridation in situ fluorescente (FISH) sur les noyaux de spermatozoides humains." Université Joseph Fourier (Grenoble ; 1971-2015), 1995. http://www.theses.fr/1995GRE10072.

Full text

Abstract:

Les segregations meiotiques des chromosomes 2, 7, 14 et 22 sont etudies par fish deux-couleurs sur les noyaux spermatiques interphasiques de sujets a caryotype somatique normal et de sujets porteurs d'une anomalie numerique constitutionnelle. Ces profils de segregation etant similaires chez les sujets 46,xy et chez les sujets 46,xy/47,xxy et 47,xyy, nous suggerons que la presence du gonosome surnumeraire n'a pas d'influence sur la segregation des autosomes. Les segregations meiotiques des chromosomes x et y sont etudiees par fish trois-couleurs. La cohybridation des deux sondes gonosomales et

APA, Harvard, Vancouver, ISO, and other styles

More sources

Books on the topic "Chromosomal aneuploidies"

1

A, Resnick Michael, and Vig Baldev K, eds. Mechanisms of chromosome distribution and aneuploidy: Proceedings of an International Meeting on Aneuploidy held at Reno, Nevada, January 4-7, 1989. A.R. Liss, 1989.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

2

McKinlay Gardner, R. J., and David J. Amor. The Origins and Consequences of Chromosome Pathology. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0003.

Full text

Abstract:

To deal intelligently with common questions from “chromosomal families,” counselors need a broad knowledge of how gametes form, how chromosomes behave, and how the early conceptus grows. This chapter describes the ways in which chromosomes are transmitted, and the ways in which these processes can go wrong and lead to clinical abnormality. The distinction is made between “pure” aneuploidies, and abnormalities due to structural rearrangement. In particular, meiotic nondisjunction, with respect to the generation of pure aneuploidy, is discussed in considerable detail. The origins of chromosome m

APA, Harvard, Vancouver, ISO, and other styles

3

McKinlay Gardner, R. J., and David J. Amor. Sex Chromosome Aneuploidy and Structural Rearrangement. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0015.

Full text

Abstract:

There are four major sex chromosome abnormalities due to complete aneuploidy. Otherwise unassisted, infertility is practically inevitable in XXY Klinefelter syndrome and 45,X Turner syndrome. The other two conditions, XXX and XYY, apparently have little effect on fertility; furthermore, they are not discernibly associated with any increased risk for chromosomally abnormal offspring. This chapter first discusses these classic pure sex chromosomal aneuploidies. Then, deletion/duplication states of the X and Y chromosomes are reviewed, whether large and known since classical cytogenetics, or thos

APA, Harvard, Vancouver, ISO, and other styles

4

McKinlay Gardner, R. J., and David J. Amor. Down Syndrome, Other Full Aneuploidies, Polyploidy, and the Influence of Parental Age. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0013.

Full text

Abstract:

This chapter reviews the archetypical chromosome disorder, namely Down syndrome (DS; trisomy 21), and the various different chromosomal forms that may be the basis of it: standard trisomy 21, translocation trisomy, both de novo and inherited, and other rare forms. The concept of dosage imbalance as the basis of the pathogenesis is reviewed, and the “DS critical region” on chromosome 21 is examined. Reproductive risks associated with each of these DS types are discussed. The chapter considers the other full autosomal trisomies, T13 and T18, and also (mosaic) T9. Triploidy, as the basis of hydat

APA, Harvard, Vancouver, ISO, and other styles

5

McKinlay Gardner, R. J., and David J. Amor. Robertsonian Translocations. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0007.

Full text

Abstract:

Robertsonian translocations are among the most common balanced structural rearrangements seen in the general population, with a frequency in newborn surveys of about 1 in 1,000. Robertsonian translocations have their own peculiar characteristics and need to be considered separately. These translocations arise from fusions between different acrocentric chromosomes (heterologous Robertsonian translocation) or, rather rarely, between the same chromosome (homologous Robertsonian translocation). The imbalances which may be seen in gametes/offspring of carriers are either pure aneuploidies, or full

APA, Harvard, Vancouver, ISO, and other styles

6

Michael A. Resnick (Other Contributor) and Baldev K. Vig (Other Contributor), eds. Mechanisms of chromosome distribution and aneuploidy: Proceedings of an International Meeting on Aneuploidy held at Reno, Nevada, January 4-7, 1989 (Progress in clinical and biological research). A.R. Liss, 1989.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

7

Genome Stability And Human Diseases. Springer, 2009.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

Book chapters on the topic "Chromosomal aneuploidies"

1

Piomboni, Paola, Anita Stendardi, and Laura Gambera. "Chromosomal Aberrations and Aneuploidies of Spermatozoa." In Genetic Damage in Human Spermatozoa. Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4614-7783-9_3.

Full text

APA, Harvard, Vancouver, ISO, and other styles

2

Ho, Sherry S. Y., and Mahesh A. Choolani. "FlashFISH: “Same Day” Prenatal Diagnosis of Common Chromosomal Aneuploidies." In Methods in Molecular Biology. Humana Press, 2010. http://dx.doi.org/10.1007/978-1-60761-789-1_19.

Full text

APA, Harvard, Vancouver, ISO, and other styles

3

Ye, Hui, Haiping Wu, Yunlong Liu, et al. "Prenatal Diagnosis of Chromosomal Aneuploidies by Quantitative Pyrosequencing®." In Methods in Molecular Biology. Springer New York, 2015. http://dx.doi.org/10.1007/978-1-4939-2715-9_10.

Full text

APA, Harvard, Vancouver, ISO, and other styles

4

Kovacs, Tamas, Attila Jakab, Ertug Kovanci, Zoltan Zavaczki, Denny Sakkas, and Gabor Huszar. "Preparation of Sperm Fractions and Individual Sperm With Low Levels of Chromosomal Aneuploidies for IVF and ICSI." In Essential IVF. Springer US, 2004. http://dx.doi.org/10.1007/978-1-4419-8955-0_7.

Full text

APA, Harvard, Vancouver, ISO, and other styles

5

Luebke, A. M., N. H. Stoecklein, A. Erbersdobler, et al. "HER-2/neu Genamplifikation, Proteinüberexpression, und Chromosom 17 Aneuploidie beim duktalen Pankreasadenokarzinom." In Zurück in die Zukunft. Springer Berlin Heidelberg, 2003. http://dx.doi.org/10.1007/978-3-642-55611-1_475.

Full text

APA, Harvard, Vancouver, ISO, and other styles

6

Krähn, G., and M. Udart. "Expression des Epidermal-Growth-Factor-Receptor (EGFR)-Gens und Chromosom-7-Aneuploidie bei malignem Melanom." In Dermatologie an der Schwelle zum neuen Jahrtausend. Springer Berlin Heidelberg, 2000. http://dx.doi.org/10.1007/978-3-642-57191-6_132.

Full text

APA, Harvard, Vancouver, ISO, and other styles

7

Niu, Xiangli, Yanping Lao, Yan Sun, and Weihua Wang. "Next-Generation Sequencing Revealed that High Proportion of Human Embryos Resulted from Donor Eggs Are Segmental Chromosome Abnormal." In Cytogenetics [Working Title]. IntechOpen, 2020. http://dx.doi.org/10.5772/intechopen.95457.

Full text

Abstract:

High proportion of human embryos produced by in vitro fertilization (IVF) are aneuploidy or have segmental chromosomal errors. Not only a whole chromosome aneuploidy, but also small errors in a chromosome, such as microdeletion can be detected by current next-generation sequencing (NGS) for preimplantation genetic testing (PGT). The prevalence of aneuploidy in donor egg IVF was significantly different between fertility clinics. In the present study, we examined whether different embryo biopsy procedures affect embryonic aneuploidies in donor egg IVF. We did not find significant differences in the samples with abnormal chromosomes between two biopsy methods. When we further analyzed the samples with abnormal chromosomes, we found that 64.0–80.7% of the abnormalities were whole chromosome aneuploidies while 19.3–36.0% were segmental chromosome abnormalities. High embryo implantation rates were obtained after transferring screened euploid blastocysts. These results indicate that blastocyst biopsy procedures may not significantly affect embryo’s chromosomal status, but PGT by high-resolution NGS revealed that high proportions of human embryos derived from donor eggs are not only aneuploidy, but also segmental chromosome abnormal, and screening of small chromosomal errors by NGS is beneficial to patients who use donated eggs for infertility treatment.

APA, Harvard, Vancouver, ISO, and other styles

8

Niu, Xiangli, Yanping Lao, Yan Sun, and Weihua Wang. "Next-Generation Sequencing Revealed that High Proportion of Human Embryos Resulted from Donor Eggs Are Segmental Chromosome Abnormal." In Cytogenetics - Classical and Molecular Strategies for Analysing Heredity Material. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.95457.

Full text

Abstract:

High proportion of human embryos produced by in vitro fertilization (IVF) are aneuploidy or have segmental chromosomal errors. Not only a whole chromosome aneuploidy, but also small errors in a chromosome, such as microdeletion can be detected by current next-generation sequencing (NGS) for preimplantation genetic testing (PGT). The prevalence of aneuploidy in donor egg IVF was significantly different between fertility clinics. In the present study, we examined whether different embryo biopsy procedures affect embryonic aneuploidies in donor egg IVF. We did not find significant differences in the samples with abnormal chromosomes between two biopsy methods. When we further analyzed the samples with abnormal chromosomes, we found that 64.0–80.7% of the abnormalities were whole chromosome aneuploidies while 19.3–36.0% were segmental chromosome abnormalities. High embryo implantation rates were obtained after transferring screened euploid blastocysts. These results indicate that blastocyst biopsy procedures may not significantly affect embryo’s chromosomal status, but PGT by high-resolution NGS revealed that high proportions of human embryos derived from donor eggs are not only aneuploidy, but also segmental chromosome abnormal, and screening of small chromosomal errors by NGS is beneficial to patients who use donated eggs for infertility treatment.

APA, Harvard, Vancouver, ISO, and other styles

9

Routhu, Madhavilatha, and Shiva Surya Varalakshmi Koneru. "Prenatal Screening of Aneuploidies." In Genetics and Etiology of Down Syndrome [Working Title]. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.96757.

Full text

Abstract:

Chromosomal abnormalities includes1) abnormalities in number of chromosomes which are known as aneuploidies and 2) structural defects like translocations and deletions. In this we will discuss about Aneuploidies The incidence of Aneuploidy is around one in 200 live births. Aneuploidy increases with advancing maternal age. Fetal aneuploidy has been associated with significant pregnancy complications such as growth restriction, congenital malformations and perinatal deaths. Several Major developments are happened in prenatal screening of Aneuploidy especially the introduction of first trimester screen with Nuchal thickness and fetal cell free DNA in maternal plasma and identification of ultrasound markers and biochemical screening in second trimester. In this chapter we will discuss about what are trisomies, why “Down syndrome” is important to detect prenatally, history of “Down syndrome”, advances in screening methods biochemical as well as sonographic markers in first and second trimester and the criteria to get those markers. What are the features of trisomy 21, trisomy18 and trisomy13.

APA, Harvard, Vancouver, ISO, and other styles

10

Crow, Tim J. "Sexual Selection, Timing and an X–Y Homologous Gene: Did Homo Sapiens Speciate on the Y Chromosome?" In The Speciation of Modern Homo Sapiens. British Academy, 2004. http://dx.doi.org/10.5871/bacad/9780197263112.003.0011.

Full text

Abstract:

This chapter provides a theory of the speciation of modern Homo sapiens, that a single gene played a critical role in the transition from a precursor species. The theory is founded upon the following: firstly, the premise that hemispheric asymmetry is the defining feature of the human brain and the only plausible correlate of language; secondly, an argument for a specific candidate region (the Xq21.3/Yp11.2 region of homology) based upon the reciprocal deficits associated with the sex chromosome aneuploidies, and the course of chromosomal change in hominid evolution; and thirdly, a particular evolutionary mechanism (sexual selection acting on an X-Y-linked gene) to account for species-specific modification of what initially was a saltational change. These postulates relate to the case of modern Homo sapiens. On the basis of the recent literature, the discussion argues that the third premise has general significance as a mechanism of speciation.

APA, Harvard, Vancouver, ISO, and other styles

Conference papers on the topic "Chromosomal aneuploidies"

1

Scofield, H., R. Sharma, V. Harris, et al. "313 Very rare x chromosome aneuploidies in lupus and sjogren’s." In LUPUS 2017 & ACA 2017, (12th International Congress on SLE &, 7th Asian Congress on Autoimmunity). Lupus Foundation of America, 2017. http://dx.doi.org/10.1136/lupus-2017-000215.313.

Full text

APA, Harvard, Vancouver, ISO, and other styles

2

Taylor, Alison M., Sejal Jain, Juliann Shih, Andrew D. Cherniack, Rameen Beroukhim, and Matthew Meyerson. "Abstract A44: Functional models of chromosome arm-level aneuploidies in cancer." In Abstracts: AACR Special Conference on the Evolving Landscape of Cancer Modeling; March 2-5, 2020; San Diego, CA. American Association for Cancer Research, 2020. http://dx.doi.org/10.1158/1538-7445.camodels2020-a44.

Full text

APA, Harvard, Vancouver, ISO, and other styles

3

Taylor, Alison Marie, Sejal Jain, Juliann Shih, Andrew D. Cherniack, Rameen Beroukhim, and Matthew Meyerson. "Abstract 2135: Functional models of chromosome arm aneuploidies in lung squamous cell carcinoma." In Proceedings: AACR Annual Meeting 2021; April 10-15, 2021 and May 17-21, 2021; Philadelphia, PA. American Association for Cancer Research, 2021. http://dx.doi.org/10.1158/1538-7445.am2021-2135.

Full text

APA, Harvard, Vancouver, ISO, and other styles

4

Taylor, Alison M., Gavin Ha, Juliann Shih, Xiaoyang Zhang, Joshua M. Francis, and Matthew Meyerson. "Abstract 409: Genome engineering to generate models of chromosome arm-level aneuploidies in lung carcinoma." In Proceedings: AACR Annual Meeting 2017; April 1-5, 2017; Washington, DC. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.am2017-409.

Full text

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!