Human Cytogenetics

Contents

Foreword

Preface

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

Bibliography

Addendum

Author Index

Subject Index