Chapter 3. Human Cytogenetics

  1. Patrizia Ferretti2,
  2. Andrew Copp2,
  3. Cheryll Tickle3 and
  4. Gudrun Moore4
  1. J. D. A. Delhanty

Published Online: 25 JAN 2010

DOI: 10.1002/9780470090121.ch3

Embryos, Genes and Birth Defects, Second Edition

Embryos, Genes and Birth Defects, Second Edition

How to Cite

Delhanty, J. D. A. (2008) Human Cytogenetics, in Embryos, Genes and Birth Defects, Second Edition (eds P. Ferretti, A. Copp, C. Tickle and G. Moore), John Wiley & Sons Ltd, Oxford, UK. doi: 10.1002/9780470090121.ch3

Editor Information

  1. 2

    Neural Development Unit/Developmental Biology Unit, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK

  2. 3

    Division of Cell and Developmental Biology, School of Life Sciences, MSI/WTB Complex, University of Dundee, Dow Street, Dundee, UK

  3. 4

    Clinical and Molecular Genetics, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK

Author Information

  1. UCL Centre for Preimplantation Genetic Diagnosis, Department of Obstetrics and Gynaecology, University College London, 86–96 Chenies Mews, London, WC1E 6HX, UK

Publication History

  1. Published Online: 25 JAN 2010
  2. Published Print: 21 NOV 2008

ISBN Information

Print ISBN: 9780470090107

Online ISBN: 9780470090121

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Keywords:

  • human cytogenetics;
  • triploidy - occurring in early miscarriages;
  • structural anomalies by chromosome breakage and abnormal reunion;
  • chromosome abnormalities - gametogenesis, fertilization, embryogenesis;
  • complexities of chromosome behaviour in meiotic divisions;
  • metaphase II oocytes - two or more well-separated chromatids;
  • pre-implantation genetic diagnosis (PGD);
  • comparative genomic hybridization (CGH);
  • post-zygotic errors and mosaicism;
  • relative parental risks - translocations, inversions, gonadal and germinal mosaics

Summary

This chapter contains sections titled:

  • Introduction

  • Population cytogenetics

  • Structural anomalies

  • The genesis of chromosome abnormalities

  • Embryo survival

  • The cause of high levels of chromosome abnormality in human embryos

  • Relative parental risks – age, translocations, inversions, gonadal and germinal mosaics

  • References