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Introduction

  • Chapter
Atlas of Human Chromosome Heteromorphisms

Abstract

The cornerstone of genetics is variation. No two individuals are alike, nor are their chromosomes. Heteromorphisms represent microscopically visible regions on chromosomes that are variable in size, morphology and staining properties in different individuals. Literally meaning “other or different forms”, the term “heteromorphism” is often used interchangeably with the terms “variant” or “polymorphism”. Polymorphism, however, is more correctly used in other contexts, implying multiple identifiable forms of a gene or molecule rather than of chromosome morphology. The term “normal variant” is often used, but is less precise. The main distinction is that heteromorphism can be seen under the microscope, whereas a polymorphism or normal variant might not. Because of widespread usage, both “normal variant” and “heteromorphism” are used interchangeably in this book. Heteromorphisms are typically stable, inherited and, by definition, every individual carries at least one form, if not two, for every heteromorphic region on their chromosomes.

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Authors
  1. Herman E. Wyandt
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Editors and Affiliations

  1. Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts, USA

    Herman E. Wyandt PhD, FACMG (Associate Professor of Pathology Director of Cytogenetics) (Associate Professor of Pathology Director of Cytogenetics)

  2. Department of Pediatrics and Pathology, Texas Tech University Health Sciences Center, Lubbock, Texas, USA

    Vijay S. Tonk PhD, FACMB (Professor of Pediatrics. Director of Cytogenetics and Medical Genetics) (Professor of Pediatrics. Director of Cytogenetics and Medical Genetics)

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Wyandt, H.E. (2004). Introduction. In: Wyandt, H.E., Tonk, V.S. (eds) Atlas of Human Chromosome Heteromorphisms. Springer, Dordrecht. https://doi.org/10.1007/978-94-017-0433-5_1

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  • DOI: https://doi.org/10.1007/978-94-017-0433-5_1

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