Chapter 20. Principles of Human Genetics: Chromosomal and Singlegene Disorders

  1. E. Albert Reece MD, PhD, MBA1 and
  2. John C. Hobbins MD2
  1. Joe Leigh Simpson and
  2. Maurice J. Mahoney

Published Online: 14 JAN 2008

DOI: 10.1002/9780470753293.ch20

Clinical Obstetrics: The Fetus & Mother, Third Edition

Clinical Obstetrics: The Fetus & Mother, Third Edition

How to Cite

Simpson, J. L. and Mahoney, M. J. (2007) Principles of Human Genetics: Chromosomal and Singlegene Disorders, in Clinical Obstetrics: The Fetus & Mother, Third Edition (eds E. A. Reece and J. C. Hobbins), Blackwell Publishing, Inc., Malden, Massachusetts, USA. doi: 10.1002/9780470753293.ch20

Editor Information

  1. 1

    Vice President for Medical Affairs, University of Maryland, and John Z. & Akiko K. Bowers Distinguished Professor and Dean, School of Medicine, Baltimore, Maryland

  2. 2

    Professor of Obstetrics and Gynecology, University of Colorado School of Medicine, University of Colorado Health Sciences Center, Denver, Colorado

Author Information

  1. Vice President for Medical Affairs, University of Maryland, and John Z. & Akiko K. Bowers Distinguished Professor and Dean, School of Medicine, Baltimore, Maryland

Publication History

  1. Published Online: 14 JAN 2008
  2. Published Print: 1 JAN 2007

ISBN Information

Print ISBN: 9781405132169

Online ISBN: 9780470753293

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Keywords:

  • fetal diseases;
  • human genetics;
  • singlegene disorders;
  • chromosomal analysis;
  • molecular cytogenetic analysis

Summary

This chapter contains section titled:

  • Definitions and cytological origin of numerical chromosomal abnormalities

  • Definitions and cytological origin of structural chromosomal abnormalities

  • Single gene abnormalities (mendelian inheritance)

  • Molecular basis of the gene

  • Molecular analysis of the gene and its clinical applicability

  • Polygenic-multifactorial inheritance

  • Diagnosis of singlegene disorders

  • Screening for recessive disorders

  • Methods of diagnosis

  • Prenatal diagnosis of specific disorders

  • Conclusion

  • Key points