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Books on the topic 'Chromosomal rearrangements'

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Published: 4 June 2021
Last updated: 25 May 2024

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1

Rowley, Janet D., Michelle M. Le Beau, and Terence H. Rabbitts, eds. Chromosomal Translocations and Genome Rearrangements in Cancer. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-19983-2.

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2

Horsley, Sharon Wendy. Characterisation of chromosome 16 rearrangements in patients with alpha thalassaemia. [Oxford]: Oxford Brookes University, 2000.

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3

Michael, Potter, Melchers F. 1936-, National Cancer Institute (U.S.), and Workshop on Mechanisms in B-Cell Neoplasia (12th : 1994 : Bethesda, Maryland ), eds. Mechanisms in B-cell neoplasia 1994: [12th workshop, Bethesda, MD, April 18-20, 1994]. Berlin: Springer-Verlag, 1995.

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4

McKinlay Gardner, R. J., and David J. Amor. Complex Chromosomal Rearrangements. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0010.

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Complex chromosome rearrangements (CCRs) include most of the rearrangements that would not be accounted for as “straightforward” classical categories. They may be translocations with three or more segments involved; or they may comprise a mix of translocation and, for example, inversion. Some can be extraordinarily complex. CCRs are classified as types I–IV, most falling into the “least complex” type I category, while types II–IV are grouped as “exceptional CCRs.” Many unbalanced CCRs have arisen de novo and imply no increased reproductive risk. The identification of the clinically normal balanced CCR carrier is less frequent, and for these people, the reproductive risks can be very high.
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5

McKinlay Gardner, R. J., and David J. Amor. Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, Neocentromeres, Jumping Translocations, and Chromothripsis. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0012.

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This chapter reviews a number of very rare chromosomal rearrangements: centromere fissions, complementary isochromosomes, telomeric fusions, balancing supernumerary chromosomes, neocentromeres, jumping translocations, and chromothripsis. Centromere fission results when a metacentric or submetacentric chromosome splits at the centromere, giving rise to two stable telocentric products. The Robertsonian fission reverses the fusion that had originally generated it. Telomeric fusion leads to a 45-chromosome count. With the balanced complementary isochromosome carrier, two stable exactly metacentric products are generated. A balancing small supernumerary marker chromosome contains material deleted from the normal homolog. A supernumerary chromosome lacking a normal centromere can become stable and functional due to the generation of a neocentromere. In jumping translocations, a segment can move from one chromosome to two or more recipient chromosomes. Chromothripsis takes complex rearrangement to a yet more complex level. The reproductive risks associated with each are noted.
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6

Rowley, Janet D., Michelle M. Le Beau, and Terence H. Rabbitts. Chromosomal Translocations and Genome Rearrangements in Cancer. Springer, 2015.

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7

Rowley, Janet D., Michelle M. Le Beau, and Terence H. Rabbitts. Chromosomal Translocations and Genome Rearrangements in Cancer. Springer, 2019.

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8

Rowley, Janet D., Michelle M. Le Beau, and Terence H. Rabbitts. Chromosomal Translocations and Genome Rearrangements in Cancer. Springer London, Limited, 2015.

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9

Tentler, Dmitry. Cytogenetic & Molecular Analysis of Chromosomal Rearrangements Associated With Neuropsychiatric Disorders. Uppsala Universitet, 2001.

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10

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 those only having come to light due to the power of twenty-first century molecular karyotyping. Recurrence risks are considered both for those who (if fertile, naturally or via in vitro fertilization) might themselves have such an abnormality, and for normal parents having had an affected child.
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11

Pavlus, Janice Elaine. Characterization of two lethal mutations induced by chromosomal rearrangements involving the 4f-rnp locus of Drosophila melanogaster. 1996.

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12

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 mosaicism are reviewed. Mention is made of abnormalities due to epigenetic mechanisms.
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13

Dean, Michael, and Karobi Moitra. Biology of Neoplasia. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0002.

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The term “cancer” encompasses a large heterogeneous group of diseases that involve uncontrolled cell growth, division, and survival, culminating in local invasion and/or distant metastases. Cancer is fundamentally a genetic disease at the cellular level. Tumors occur because clones of abnormal cells acquire multiple lesions in DNA, nearly always involving mutations, chromosomal rearrangements, and extensive alteration of the epigenome. Up to 10% of cancers also involve inherited germline mutations that are moderately to highly penetrant. Cancers begin as localized growths or premalignant lesions that may regress or disappear spontaneously, or progress to a malignant primary tumor. The somatic changes that drive abnormal growth involve activating mutations of specific oncogenes, inactivation of tumor suppressor genes, and/or disruption of epigenetic controls. The latter can result from methylation or the modification of histones and other proteins that affect the remodeling of chromosomes. Numerous non-inherited factors can cause cancer by accelerating these events.
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14

McKinlay Gardner, R. J., and David J. Amor. Inversions. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0009.

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Inversions are intrachromosomal structural rearrangements. The most common is the simple (or single) inversion. If the inversion coexists with another rearrangement in the same chromosome, it is a complex inversion. In an inversion, a segment of chromosome is switched 180 degrees. If this segment includes the centromere, this is a pericentric inversion; if not, it is a paracentric inversion. In principle, and almost always in practice, it is only the pericentric inversion that conveys an important genetic risk to carriers of the inversion: Their children may inherit a “recombinant” chromosome that would inevitably be imbalanced. This chapter considers these two type of inversions and discusses the degree of genetic risk that may—or may not—be associated.
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15

McKinlay Gardner, R. J., and David J. Amor. Chromosome Instability Syndromes. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0016.

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A defect of DNA repair is the factor underlying the chromosome instability syndromes, also known as chromosome breakage syndromes. The “instability” refers to the predisposition of the chromosomes to undergo rearrangement or to display other abnormal cytogenetic behavior. The classic chromosome instability syndromes are individually rare: Fanconi syndrome, ataxia-telangiectasia, and Bloom syndrome. Smaller-print conditions are yet more rare, including Roberts syndrome; the immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome; and Nijmegen breakage syndrome. The role of cytogenetics in diagnosis is less central than formerly, but the interest in these conditions remains, and this chapter provides a full listing. Autosomal recessive inheritance is typical, albeit not universal.
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16

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

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17

McKinlay Gardner, R. J., and David J. Amor. Prenatal Testing Procedures. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0020.

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This chapter is somewhat technical; it reviews the laboratory methodologies by which a prenatal diagnosis can be made and the clinical procedures whereby tissue is obtained. The main indications for prenatal cytogenetic diagnosis are the pregnant woman being of older childbearing age, parental heterozygosity for a chromosome rearrangement, the birth of a previous child with a chromosome defect, increased risk on maternal screening tests, and fetal anomaly detected on ultrasonography. The move to molecular methodology is noted. The remarkable advances in NIPT (noninvasive prenatal testing), such that this approach has now become routinely available, are canvassed. The chapter briefly discusses ethical questions in the delivery of prenatal diagnosis. It reviews the approaches in fetal chromosomal screening, by a combined ultrasound and blood biochemical analysis, and the secular changes associated with this.
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18

McKinlay Gardner, R. J., and David J. Amor. Autosomal Structural Rearrangements. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0014.

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This chapter considers the question of autosomal deletions and duplications, first from the aspect of presumed mechanisms by which they may arise, and then followed by a lengthy (but not encyclopedic) listing of specific imbalances. This listing is informed by the increased knowledge enabled by modern molecular karyotyping, and a number of conditions are those only of twenty-first century discovery. Conditions are listed by the chromosome involved, and each section is headed by a diagram showing the specific segments under consideration. In each, wherever known, a comment is made on possible de novo versus inherited forms, and inferences are drawn as to any recurrence risk in a future pregnancy.
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19

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.

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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 uniparental disomies. There is also an association with male infertility. This chapter considers the case of the phenotypically normal person who carries, in balanced form, a Robertsonian translocation.
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20

E, Davies K., and Warren Stephen T, eds. Genome rearrangement and stability. Plainview, N.Y: Cold Spring Harbor Laboratory Press, 1993.

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21

Wu, David J., and Carolyn Schanen. Chromosome 15q11.2q13.3 Aneusomies and Autism Spectrum Disorders. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0017.

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Chapter 17 discusses Chromosome 15, which is a small, satellited acrocentric chromosome that shows remarkable structural complexity in the proximal long arm, and which leads to a host of rearrangements that have been implicated in human genetic disorders. Interpretation of potential genotype–phenotype relationships for the unique and overlapping deletions and duplications that have been identified must consider key structural and functional elements that impact the complement of genes that are ultimately misexpressed.
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22

McKinlay Gardner, R. J., and David J. Amor. Insertions. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0008.

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Insertions are a type of translocation, and indeed they are sometimes referred to as “insertional translocation,” “interstitial translocation,” or “nonreciprocal translocation.” Here, a segment of one chromosome is removed and inserted within another chromosome (in contradistinction to the usual translocation, in which the translocated segment is attached to the end of a recipient chromosome). It is, essentially, a one-way translocation; that is, there is no reciprocal movement back to the originating chromosome. Insertions are rare rearrangements, at the level of detection according to classical cytogenetics. Insertions have their own specific qualities that influence risk assessment, and these are discussed in this chapter.
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23

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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24

Mechanisms in B-cell neoplasia 1994. Berlin: Springer-Verlag, 1995.

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25

Potter, M. Mechanisms in B-Cell Neoplasia 1994 (Current Topics in Microbiology and Immunology). Springer-Verlag, 1994.

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26

Potter, M., and Michael Potter. Mechanisms in B-Cell Neoplasia 1994. SPRINGER-VERLAG, 1995.

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