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Chromosome Analysis of Autopsy Tissue

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Handbook of Autopsy Practice

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Abstract

Various aneuploidies of the sex chromosomes are the most common chromosome abnormalities encountered in autopsies of adults. The Turner (usually 45,X but mosaicism is common) and Klinefelter (47,XXY) syndromes are two examples (1). Deletions or unbalanced translocations and inversions are rarely seen in autopsies of adults because patients with these abnormalities seldom survive into adulthood. Approximately 1/500 adults carries a genetically balanced abnormality of chromosome structure. These balanced chromosome anomalies may affect the reproductive history of an individual, but rarely affect the phenotype (2). Some adults have sporadic chromo some changes as part of a chromosome breakage syndrome such as Fanconi anemia (3), ataxia-telangiectasia (4), Bloom syndromes (5), and others.

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Author information

Authors and Affiliations

  1. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA

    Gordon W. Dewald PHD (Emeritus Member, Emeritus Professor of Laboratory Medicine and Pathology)

  2. Medical Genetics, College of Medicine, Mayo Clinic, Rochester, MN, USA

    Gordon W. Dewald PHD (Emeritus Member, Emeritus Professor of Laboratory Medicine and Pathology)

Authors
  1. Gordon W. Dewald PHD
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Editor information

Editors and Affiliations

  1. Department of Pathology and Laboratory Medicine, University of Vermont, USA

    Brenda L. Waters MD (Associate Professor) (Associate Professor)

  2. Fletcher Allen Health Care, Burlington, VT, USA

    Brenda L. Waters MD (Associate Professor) (Associate Professor)

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© 2009 Humana Press, a part of Springer Science+Business Media, LLC

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Dewald, G.W. (2009). Chromosome Analysis of Autopsy Tissue. In: Waters, B.L. (eds) Handbook of Autopsy Practice. Humana Press. https://doi.org/10.1007/978-1-59745-127-7_9

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  • DOI: https://doi.org/10.1007/978-1-59745-127-7_9

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-841-6

  • Online ISBN: 978-1-59745-127-7

  • eBook Packages: MedicineMedicine (R0)

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