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