Chapter

Elements of Medical Cytogenetics

R. J. McKinlay Gardner, Grant R. Sutherland and Lisa G. Shaffer

in Chromosome Abnormalities and Genetic Counseling

Fourth edition

Published on behalf of Oxford University Press

Published in print November 2011 | ISBN: 9780195375336
Published online October 2012 | e-ISBN: 9780199975174 | DOI: http://dx.doi.org/10.1093/med/9780195375336.003.0001

Series: Oxford Monographs on Medical Genetics

Elements of Medical Cytogenetics

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CHROMOSOMES WERE first seen and named in the late nineteenth century. Chromosome is a combination of Greek words meaning colored (chrom) body (soma); the word was coined by the illustrious German anatomist Heinrich Wilhelm Gott fried von Waldeyer-Hartz. It was early appreciated that these brightly staining objects appearing in the cell nucleus must be the “stuff of heredity,” the very vessels of our genetic inheritance. This chapter acts as an overview, and includes a brief historical summary, chromosomal morphology, structure and function, the basicis of chromosome abnormality, including autosomal imbalance (structural imbalance and functional imbalance) and sex chromosomal abnormality, and the frequency and impact of cytogenetic pathology. The chapter ends with a brief discussion of ethical and councelling issues. The focus in this book is on the biology of chromosomal defects and the reproductive risks they may entail. Certain bioethical issues, coming to be more formally defined in the late twentieth century, do, however, demand attention. Counselors must hold fast to these requirements: (1) that they act beneficently toward their patients; and (2) that they strive to make their services accessible to those who may need them.

Chapter.  10287 words.  Illustrated.

Subjects: Clinical Genetics

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