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1

Dellarco, Vicki L., Peter E. Voytek, Alexander Hollaender, et al., eds. Aneuploidy. Springer US, 1985. http://dx.doi.org/10.1007/978-1-4613-2127-9.

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2

K, Vig Baldev, and Sandberg Avery A, eds. Aneuploidy. Liss, 1987.

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3

M, Carpanini F., and European Centre for Ecotoxicology and Toxicology of Chemicals., eds. Aneuploidy. ECETOC, 1997.

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4

Büchner, Th, Clara D. Bloomfield, W. Hiddemann, D. K. Hossfeld, and J. Schumann, eds. Tumor Aneuploidy. Springer Berlin Heidelberg, 1985. http://dx.doi.org/10.1007/978-3-642-70458-1.

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5

Th, Büchner, and Andreeff Michael 1943-, eds. Tumor aneuploidy. Springer-Verlag, 1985.

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6

Vig, Baldev K., ed. Chromosome Segregation and Aneuploidy. Springer Berlin Heidelberg, 1993. http://dx.doi.org/10.1007/978-3-642-84938-1.

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7

L, Dellarco Vicki, Voytek Peter E, Hollaender Alexander 1898-, and Symposium on Aneuploidy: Etiology and Mechanisms (1985 : Carnegie Institution of Washington), eds. Aneuploidy: Etiology and mechanisms. Plenum Press, 1985.

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8

K, Vig Baldev, and NATO Advanced Research Workshop on Chromosome Segregation and Aneuploidy (1992 : Aghia Pelagia, Greece), eds. Chromosome segregation and aneuploidy. Springer-Verlag, 1993.

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9

Storchova, Zuzana. Aneuploidy in health and disease. InTech, 2012.

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10

Klinga, Karin. Aneuploidy in induced autotetraploid forage grasses. [s.n.], 1987.

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11

G, Ratcliffe Shirley, Paul Natalie W, and March of Dimes Birth Defects Foundation., eds. Prospective studies on children with sex chromosome aneuploidy. Liss, 1986.

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12

Tice, Raymond R. Aneuploidy test development: Kinetochore staining in mammalian systems. U.S. Environmental Protection Agency, Office of Health and Environmental Assessment, 1986.

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13

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.

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14

Pascoe, Sally Ann. The Muntjac spindle staining assay: An investigation of the ability of this assay to detect potential aneuploidy inducing agents. Brunel University, 1988.

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15

Rees, Sally Anne. Fluorescence in situ hybridisation (FISH) to determine aneuploidy for chromosomes 1 and 12 in the normal male germ-line and in men exposed to radiation. University of Birmingham, 1997.

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16

A, Evans Jane, Hamerton John L, Robinson Arthur 1914-, and March of Dimes Birth Defects Foundation., eds. Children and young adults with sex chromosome aneuploidy: Follow-up, clinical, and molecular studies : proceedings of the 5th International Workshop on Sex Chromosome Anomalies held at Minaki, Ontario, Canada, June 7-10, 1989. Wiley-Liss, 1991.

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17

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.

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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
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18

VIG, BK. Vig: Aneuploidy - Induction & Test Systems (Aneuploidy). John Wiley & Sons Inc, 1988.

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19

Hiddemann, Wolfgang, Thomas Büchner, Clara D. Bloomfield, M. Andreeff, and B. Barlogie. Tumor Aneuploidy. Springer London, Limited, 2013.

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20

Büchner, Thomas, Clara Bloomfield, and M. Andreeff. Tumor Aneuploidy. Springer, 2014.

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21

Schumann, Johannes, Wolfgang Hiddemann, Thomas Büchner, Clara D. Bloomfield, and Dieter K. Hossfeld. Tumor Aneuploidy. Springer, 1985.

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22

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.

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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
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23

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.

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24

Vig, Baldev K. Chromosome Segregation and Aneuploidy. Springer London, Limited, 2013.

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25

Dellarco, Vicki. Aneuploidy: Etiology and Mechanisms. Springer, 2013.

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26

Vig, Baldev K. Chromosome Segregation and Aneuploidy. Springer, 2012.

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27

Dellarco, Vicki. Aneuploidy: Etiology and Mechanisms. Springer London, Limited, 2012.

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28

Vig, Baldev K. Chromosome Segregation and Aneuploidy. Springer London, Limited, 2012.

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29

Dellarco, Vicki. Aneuploidy: Etiology And Mechanisms. Springer, 2011.

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30

Pennings, Klaus Matthias. DNA-Aneuploidie in aktinischen Keratosen. 1991.

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31

Storchova, Zuzana, ed. Aneuploidy in Health and Disease. InTech, 2012. http://dx.doi.org/10.5772/2155.

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32

Aneuploidy: Impacts on Human Health. CALLISTO REFERENCE, 2015.

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33

Vig, Baldev K., and Avery A. Sandberg. Aneuploidy, Pt. A: Incidence and Etiology. Wiley & Sons, Incorporated, John, 1987.

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34

Bianchi, Filippo, and Salvatore De Rossi. Aneuploidy: Etiology, Disorders, and Risk Factors. Nova Science Publishers, Incorporated, 2012.

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35

Resnick, Michael A. Mechanisms of Chromosome Distribution and Aneuploidy: Proceedings of an International Meeting on Aneuploidy Held at Reno, Nevada, January 4-7, 1989 (Progress in Clinical & Biological Resear). Wiley-Liss, 1989.

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36

Trisomy 21 and Other Fetal Aneuploidies [Working Title]. IntechOpen, 2020. http://dx.doi.org/10.5772/intechopen.78172.

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37

Seelbach, Angelika. Prüfsysteme an Säugerzellkulturen zur Erfassung chemisch induzierter Aneuploidien. 1992.

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38

Kaiser, Hildegunde. Zum Einfluss der X-chromosomalen Aneuploidie auf die Neuromotorik. 1998.

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39

Mathiesen, Amber, and Kali Roy. Common Indications. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190681098.003.0005.

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This chapter describes common reasons for referral to a perinatal genetic counselor including age-related risks, personal and family history, ultrasound anomalies, teratogen exposure, recurrent pregnancy loss, and preconception counseling. Maternal and paternal age-related pregnancy risks are described, such as aneuploidy, single-gene conditions, and autism. A referral for a personal and/or family history of various conditions including single-gene conditions, aneuploidy, multifactorial conditions, birth defects, intellectual disability, developmental delay, autism, and consanguinity is descri
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40

executive, Health and safety. The Measure of the Induction of Aneuploidy by Chemicals. Health and Safety Executive (HSE), 2000.

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41

LaGrave, Danielle, Patricia L. Devers Winters, and Geralyn Lambert-Messerlian. Prenatal Screening Technologies and Test Issues. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190604929.003.0007.

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Maternal serum screening began with the measurement of serum alpha fetal protein to detect open neural tube defects, which led to the implementation of routine serum-based prenatal screening in the second trimester for Down syndrome. Advances via combined and integrated screening allowed for the first-trimester detection of both Down syndrome and trisomy 18. Next-generation sequencing has enabled the identification of aneuploidies in circulating cell-free fetal DNA from the plasma fraction of maternal whole blood. This breakthrough in molecular genetic testing, commonly referred to as noninvas
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42

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.

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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
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43

Zürich, Eidgenössische Technische Hochschule, ed. Chemische Charakterisierung der Wechselwirkungen von aneuploidie-induzierenden Stoffen mit Proteinen des Spindelapparates. 1990.

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44

Rasnick, David. Chromosomal Imbalance Theory of Cancer: The Autocatalyzed Progression of Aneuploidy Is Carcinogenesis. Taylor & Francis Group, 2016.

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45

Rasnick, David. Chromosomal Imbalance Theory of Cancer: The Autocatalyzed Progression of Aneuploidy Is Carcinogenesis. Taylor & Francis Group, 2016.

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46

The chromosomal imbalance theory of cancer: Autocatalyzed progression of aneuploidy is carcinogenesis. CRC Press, 2012.

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47

Muysers, Andreas. Häufigkeit chromosomaler Aneuploidien: Analyse nach Lymphozytenkulturen von M. Down Patienten und über 60jährigen Probanden. 1995.

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48

Büsche, Guntram Hartmut. DNS-Aneuploidien in follikulären Schiddrüsenveränderungen (endemischen Knotenstrumen und follikulären Adenomen): Inzidenz und klinische Bedeutung. 1990.

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49

Balboula, Ahmed Z. Molecular Mechanisms Determining Mammalian Oocyte Quality: Oocyte Developmental Competence, Aneuploidy, and Clinical Relevance. Springer International Publishing AG, 2024.

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50

Oncogenes, Aneuploidy, and AIDS: A Scientific Life and Times of Peter H. Duesberg. North Atlantic Books, 2004.

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