Medical genetics / edited by Victor A. McKusick and Robert Claiborne.

Date:
[1973]
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Medical genetics / edited by Victor A. McKusick and Robert Claiborne. Source: Wellcome Collection.

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    Table of Contents Contributing Authors IX Acknowledgments and Publisher's Note XI Introduction XIII Section I CHROMOSOMES AND THEIR DISORDERS KURT HIRSCHHORN 1. Chromosomal Abnormalities I: Autosomal Defects 3 The mechanisms that give rise to trisomies and other autosomal anomalies are described and related to a variety of clinical syndromes. MALCOLM A. FERGUSON-SMITH 2. Chromosomal Abnormalities II: Sex Chromosome Defects 16 Tvi'o sex chromosomes cause more disease than all other chromosomes combined. However, most sex-linked diseases are less severe than those produced by autosomal defects. TORBJÖRN CASPERSSON and LORE ZECH 3. Chromosome Identification by Fluorescence 27 Thanks to this new technique, unequivocal identification of all chromosomes in the human karyotype is now possible. It is already being applied in genetic counseling. JAMES GERMAN 4. Oncogenic Implications of Chromosomal Instability 39 The evidence is reviewed that chromosomal instability, as seen in rare genetic disorders carrying an increased risk of cancer, may be a common denominator of oncogenesis. Section II BASIC BIOCHEMICAL GENETICS C.LOCKARD CONLEY and SAMUEL CHARACHE 5. Inherited Hemoglobinopathies 53 These disorders, important in themselves, are exemplary of underlying mechanisms that elucidate many of the basic principles of genetic interactions.