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1

Standing Committee on Human Cytogenetic Nomenclature. ISCN 1985-- An international system for human cytogenetic nomenclature (1985): Report of the Standing Committee on Human Cytogenetic Nomenclature. Edited by Harnden D. G, Kaelbling Margot, Klinger Harold P, and March of Dimes Birth Defects Foundation. Basel: Karger, 1985.

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2

Veenema, Henk. Clinical, cytogenetic and molecular aspects of the fragile-X syndrome. Amsterdam/Haarlem: Uitgeverij Thesis, 1989.

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3

Hamta, Ahmad. The BDII rat model of endometrial cancer: Molecular analysis of genetic and cytogenetic aberrations. Göteborg: Department of Cell and Molecular Biology-Genetics, Lundberg Institute, Göteborg University, 2006.

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4

Hamta, Ahmad. The BDII rat model of endometrial cancer: Molecular analysis of genetic and cytogenetic aberrations. Göteborg: Department of Cell and Molecular Biology-Genetics, Lundberg Institute, Göteborg University, 2006.

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5

G, Shaffer Lisa, Slovak Marilyn L, and Campbell Lynda J, eds. ISCN 2009: An international system for human cytogenetic nomenclature (2009). Basel: Karger, 2009.

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6

G, Shaffer Lisa, and Tommerup Niels, eds. ISCN 2005: An international system for human cytogenetic nomenclature (2005) : recommendations of the International Standing Committee on Human Cytogenetic Nomenclature. Basel: Karger, 2005.

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7

Meeting, Italian Society for Inborn Error Diseases. Progress in mitochondrial, mendelian, and chromosomal disorders: Proceedings of the 5th Meeting of the Italian Society for Inborn Error Diseases in conjunction with the Italian Society of Medical Genetic and Italian Society of Medical Cytogenetic, Acireale, Catania, September 1984. Milano: Edi-Ermes, 1985.

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8

Felix, Mitelman, ed. Cancer cytogenetics. New York: A.R. Liss, 1987.

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9

Felix, Mitelman, ed. Cancer cytogenetics. 3rd ed. Hoboken, N.J: John Wiley & Sons, 2009.

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10

Felix, Mitelman, ed. Cancer cytogenetics. 2nd ed. New York: Wiley-Liss, 1995.

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11

A handbook of human cytogenetics. 3rd ed. Taipei: Shen Shih Colors Printing Inc., 1993.

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12

A handbook of human cytogenetics. 2nd ed. Taipei, Taiwan, Republic of China: Shen Shih Colors Print., 1987.

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13

Sharipov, I. K. Kariotip domashnikh i dikikh ovet͡s︡. Alma-Ata: Izd-vo "Nauka" Kazakhskoĭ SSR, 1989.

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14

Therman, Eeva. Human chromosomes: Structure, behavior, effects. 2nd ed. New York: Springer-Verlag, 1985.

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15

Human chromosomes: Structure, behavior, effects. New York, New York, USA: Springer-Verlag, 1986.

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16

Millard, Susman, ed. Human chromosomes: Structure, behavior, and effects. 3rd ed. New York: Springer-Verlag, 1993.

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17

New York State Task Force on Life and the Law. Genetic testing and screening in the age of genomic medicine. New York, N.Y: New York State Task Force on Life and the Law, 2000.

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18

Verma, Ram S. Human chromosomes: Manual of basic techniques. New York: Pergamon Press, 1989.

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19

Verma, Ram S. Human chromosomes: Manual of basic techniques. Oxford: Pergamon, 1989.

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20

Al-Sabti, Kabil. Handbook of genotoxic effects and fish chromosomes. Ljubljana, Yugoslavia: K. Al-Sabti, 1991.

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21

The chromosomes in human cancer and leukemia. 2nd ed. New York: Elsevier, 1990.

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22

Catalog of chromosome aberrations in cancer. 3rd ed. New York: Liss, 1988.

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23

Felix, Mitelman, ed. Catalog of chromosome aberrations in cancer. 2nd ed. New York: Liss, 1985.

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24

1963-, Johansson Bertil, and Mertens Fredrik, eds. Catalog of chromosome aberrations in cancer. 5th ed. New York: Wiley-Liss, 1994.

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25

Catalog of chromosome aberrations in cancer. 4th ed. New York: Wiley-Liss, 1991.

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26

Secker-Walker, Lorna M. Chromosomes and genes in acute lymphoblastic leukemia. New York: Springer, 1997.

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27

European Environmental Mutagen Society. Meeting. Mechanisms of environmental mutagenesis-carcinogenesis. New York: Plenum Press, 1990.

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28

Handbook of gene level diagnostics in clinical practice. Boca Raton: CRC Press, 1992.

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29

Bain, Barbara J. Chronic Myeloproliferative Disorders: Cytogenetic and Molecular Genetic Abnormalities (Chronic Myeloproliferative Disorders). S. Karger Publishers (USA), 2002.

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30

Shaffer, Lisa G., and Niels Tommerup. ISCN 2005: An International System for Human Cytogenetic Nomenclature (Cytogenetic & Genome Research). S. Karger AG (Switzerland), 2005.

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31

Zneimer, Susan Mahler. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting and Interpretation of Result. Wiley & Sons, Incorporated, John, 2014.

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32

Zneimer, Susan Mahler. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting and Interpretation of Result. Wiley & Sons, Incorporated, John, 2014.

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33

Zneimer, Susan Mahler. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting and Interpretation of Result. Wiley & Sons, Incorporated, John, 2014.

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34

Dolan, Michelle, and Betsy Hirsch. Cytogenetic Technologies and Test Issues. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190604929.003.0004.

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Cytogenetic testing is ordered in a wide range of clinical settings. The primary purpose is to evaluate for constitutional abnormalities. This chapter describes cytogenetic testing methodologies, such as microarray analysis, chromosome analysis, prenatal genetic testing, and fluorescence in situ hybridization, identifying their strengths and limitations, and details specimen processing. It summarizes commonly used nomenclature according to the International System for Human Cytogenetic Nomenclature. The chapter also discusses the criteria that laboratory genetic counselors use for reporting uncertain, novel, or ambiguous results.
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35

Agency, International Atomic Energy, ed. Cytogenetic analysis for radiation dose assessment: A manual. Vienna: International Atomic Energy Agency, 2001.

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36

B, Keagle Martha, ed. The principles of clinical cytogenetics. 2nd ed. Totowa, N.J: Humana Press, 2005.

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37

The Principles of Clinical Cytogenetics. 2nd ed. Humana Press, 2004.

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38

Rooney, D. E. Human Cytogenetics: Malignancy and Acquired Abnormalities. Oxford University Press, USA, 2001.

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39

Wegner, Rolf-Dieter. Diagnostic Cytogenetics. Springer, 1999.

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40

Lundsteen, Claes. Automation of Cytogenetics. Springer, 2012.

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41

Rooney, D. E. Human Cytogenetics: Malignancy and Acquired Abnormalities: A Practical Approach. Oxford University Press, USA, 2001.

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42

McKinlay Gardner, R. J., and David J. Amor. Chromosome Abnormalities Detected at Prenatal Diagnosis. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0021.

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Prenatal diagnosis has given medical cytogenetics one of its major areas of application: from amniocentesis in the earliest days to the recent developments of noninvasive prenatal testing based upon a sample of maternal blood. This chapter explores in detail the specific diagnoses that may be made and the decisions, with particular reference to continuation or termination of pregnancy, that face those women/couples for whom a specific diagnosis has been made. The difficulties of decision inherent in a sex chromosome aneuploidy, a microarray-level rearrangement, and in the context of mosaicism are rehearsed. This discussion is offered on the background of a review of the applied embryology.
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43

Mark, Hon Fong L., 1948-, ed. Medical cytogenetics. New York: Marcel Dekker, 2000.

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44

Claes, Lundsteen, Piper J. 1948-, Workshop on the Automation of Cytogenetics., and Commission of the European Communities., eds. Automation of cytogenetics. Berlin: Springer-Verlag, 1989.

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45

Gersen, Steven L., and Martha B. Keagle. The Principles of Clinical Cytogenetics. Springer, 2015.

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46

L, Gersen Steven, and Keagle Martha B, eds. The principles of clinical cytogenetics. Totowa, N.J: Humana Press, 1999.

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47

Art, Daniel, ed. The Cytogenetics of mammalian autosomal rearrangements. New York: A.R. Liss, 1988.

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48

McKinlay Gardner, R. J., and David J. Amor. Elements of Medical Cytogenetics. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0001.

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Chromosome is a combination of Greek words meaning colored (chrom) body (soma). Albeit that molecular methodologies have substantially taken over from classical cytogenetics, and providing a different view of the genetic material, the word chromosome will surely last forever. This chapter provides a very brief historical introduction, and a basic introduction to what chromosomes are, and the ways in which they can be abnormal. The distinction is made between disorders in which there is an excess (trisomy, duplication) of chromosome material, and those in which there is a deficiency (monosomy, deletion). Ethical questions are rehearsed that may arise in the context of the clinical management of chromosome abnormalities.
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49

E, Rooney D., and Czepulkowski B. H, eds. Human cytogenetics: Essential data. Chichester: Wiley, 1994.

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50

(Editor), D. E. Rooney, and B. H. Czepulkowski (Editor), eds. Human Cytogenetics: Essential Data. John Wiley & Sons, 1995.

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