Human Cytogenetics

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.

ContentsForewordPrefaceContents of Volume I1. 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 Summary2. 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 Female3. 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 Feminization4. 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

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