Human Cytogenetics

Human Cytogenetics

Clinical Cytogenetics

1st Edition - January 28, 1971

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  • Author: John L. Hamerton
  • eBook ISBN: 9781483266954

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Human Cytogenetics: Clinical Cytogenetics, Volume II presents the general theoretical principles and clinical aspects of cytogenetics, a branch of genetics that deals specifically with the study of the chromosomes. The volume focuses on the clinical cytogenetics of human. It discusses the sex chromosomes and their abnormalities and the abnormalities of sexual development and differentiation; mechanism of sex determination in mammals; major autosomal abnormalities found in human populations; and chromosome abnormalities in relation to human pregnancy wastage and chromosome changes in neoplasia. The book will be a great reference book for geneticists, cytogeneticists, pathologists, clinicians, and medical students.

Table of Contents

  • Contents



    Contents of Volume I

    1. Abnormal Sex Chromosome Complements in the Male

    I. Klinefelter's Syndrome and Variants

    II. Chromosome Studies in Males with Multiple Sex Chromatin Masses

    III. Chromatin-Negative Males with Two Y Chromosomes

    IV. The Effect of Sex Chromosome Heterochromatin in the Male

    V. Conclusions and Summary

    2. Abnormal Sex Chromosome Complements in the Female

    I. Ovarian Dysgenesis

    II. Pure Gonadal Dysgenesis

    III. Turner's and Ullrich's Syndrome in the Male

    IV. X Chromosome Polysomy in the Human Female

    V. The Effect of Sex Chromosome Heterochromatin in the Female

    3. The Sex Chromosomes and Intersexuality in Man

    I. Introduction and Terminology

    II. Clinical Classification and Diagnosis

    III. Sex Chromatin and Chromosome Studies

    IV. The Significance of the Variable Chromosome Complement in Human Intersexes

    V. Testicular Feminization

    4. Sex Determination and the Significance of Sex Chromosome Abnormalities in Man and Mammals

    I. Introduction

    II. Theories of Sex Determination

    III. Autosome/X Chromosome Ratio Hypothesis

    IV. X/Y Ratio Hypothesis

    V. The Intersexual States, Sex Reversal, and Sex Determination

    VI. The Germ Cells

    VII. Conclusion

    5. Autosomal Abnormalities — Group G

    I. 21-Trisomy-Down's Syndrome

    II. G-Trisomy Not Associated with Down's Syndrome

    III. G-Group Deletions

    6. Abnormalities of the Autosomes — Group E

    (16-18 Group —Denver Conference)

    I. Edwards'Syndrome (47,XX or XY, 18+)

    II. Other Numerical and Structural Alterations in the E Group Autosomes

    III. An Approach to the Mapping of Chromosome 18

    IV. Concluding Remarks

    7. Abnormalities of the Autosomes — Group D

    (13-15 Group —Denver Conference)

    I. Introduction 310

    II. Numerical Aberrations 311

    III. Structural Alterations in the D Group Resulting in Features of Patau's Syndrome

    IV. Clinical Features of D,-Trisomy

    V. Anamnestic and Epidemiological Data

    VI. Genes on Chromosome 13 or Other D Chromosomes

    VII. Concluding Remarks

    8. Abnormalities of the Autosomes: Trisomies, Deletions, Duplications, and Translocations (Except Groups D, E, and G)

    I. Chromosome Rearrangements and Phenotypic Malformations

    II. Autosomal Structural Rearrangements

    III. Location of Specific Gene Loci

    9. Cytogenetics of Human Pregnancy Wastage

    I. Introduction

    II. Types of Chromosome Abnormality in Spontaneously Aborted Fetuses

    III. Frequency of Chromosome Anomalies at Conception

    IV. Etiological and Other Factors in Spontaneous Abortions

    V. Summary and Conclusions

    10. Chromosomes and Neoplastic Disease

    I. Introduction

    II. Chromosome Abnormalities in Human Tumors

    III. The Significance of Chromosome Abnormalities in Malignant Disease



    Author Index

    Subject Index

Product details

  • No. of pages: 564
  • Language: English
  • Copyright: © Academic Press 1971
  • Published: January 28, 1971
  • Imprint: Academic Press
  • eBook ISBN: 9781483266954

About the Author

John L. Hamerton

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