Turpin / Lejeune / Alexander Human Afflictions and Chromosomal Aberrations

International Series of Monographs in Pure and Applied Biology: Modern Trends in Physiological Sciences
1. Auflage 2013
ISBN: 978-1-4831-4668-3
Verlag: Elsevier Science & Techn.
Format: PDF
Kopierschutz: 1 - PDF Watermark

E-Book, Englisch, 404 Seiten, Web PDF

Modern Trends in Physiological Sciences, Volume 32: Human Afflictions and Chromosomal Aberrations presents the study of the links between chromosome aberrations and physical and mental congenital anomalies. This book discusses the possibilities of human cytogenetic research as well as its difficulties. Organized into 15 chapters, this volume begins with an overview of the development of human chromosome investigations. This text then explains the methods for studying human chromosomes, which can be applied without controlling the atmosphere of the incubator. Other chapters describe the structural features of the normal human karyotype. This book discusses as well the early appearance of a chromosome aberration that produces a change in the hereditary patrimony manifest in a constitutional disorder of the individual. The final chapter deals with the biochemical effects that correspond to numerical or structural anomalies in chromosome 21. This book is a valuable resource for genetecists, cytogeneticists, physicians, and clinical researchers.

Autoren/Hrsg.

Turpin, Raymond

Lejeune, Jérôme

Alexander, P.

Bacq, Z. M.

Inhaltsverzeichnis

1;Front Cover;1
2;Human Afflictions and Chromosomal Aberrations;4
3;Copyright Page;5
4;Table of Contents;6
5;Preface to the English Edition;8
6;Preface;10
7;Acknowledgements;12
8;Introduction;14
9;CHAPTER 1. History;20
10;CHAPTER 2. Techniques of Studying Human Chromosomes;24
10.1;A. CULTURE TECHNIQUES;24
10.2;General remarks;24
10.3;Obtaining dividing cells;25
10.4;Spreading of chromosomes;25
10.5;Treatment of preparations;26
10.6;Special techniques;26
10.7;B. AUTORADIOGRAPHIC TECHNIQUE;37
10.8;C. TECHNIQUES OF OBSERVATION;38
11;CHAPTER 3. Normal Human Karyotype;44
11.1;Conspectus of human, mitotic chromosomes;44
11.2;Analysis of the human karyotype;46
11.3;Statistical identification of the X chromosome;59
11.4;Establishment of the karyotype in practice;64
11.5;Features of certain chromosomes;66
12;CHAPTER 4. Trisomy 21;70
12.1;BACKGROUND AND DEFINITIONS;70
12.2;1. CLINICAL AND EPIDEMIOLOGICAL ASPECTS;71
12.3;II. CHROMOSOMAL DETERMINISM;81
12.4;Masked and associated trisomies;85
13;CHAPTER 5. Numerical Autosomal Aberrations. Trisomies 13 and 18
;93
13.1;TRISOMY 13;93
13.2;TRISOMY 18;100
14;CHAPTER 6. Other Autosomal Anomalies due to Excess or Deficiencies;110
14.1;A. Small extra acrocentric;110
14.2;B. Giant satellites;111
14.3;C. Extra or abnormal medium-sized chromosome;113
14.4;D. Hyperploidies;114
14.5;E. Autosomal deletions;115
14.6;F. Syndromes with apparently normal karyotypes;121
15;CHAPTER 7. Structural Rearrangements;122
15.1;TRANSLOCATIONS;122
15.2;1. Translocations between a small and a large acrocentric Type G - D;124
16;CHAPTER 8. Leukaemias and Cancers;147
16.1;A. ASSOCIATION BETWEEN THE NEOPLASTIC PROCESS AND CONSTITUTIONAL ANOMALIES;148
16.2;B. KARYOTYPIC STUDIES OF CERTAIN SOLID TUMOURS;150
16.3;C. KARYOTYPE STUDY IN CERTAIN MALIGNANT BLOOD DISORDERS;155
16.4;LEUKAEMIAS;157
16.5;Chronic myeloid leukaemia;157
16.6;Acute myeloblastic leukaemias;160
16.7;Other types of leukaemia;162
16.8;Leukaemia in patients with trisomy 21;162
16.9;D. CONCEPT OF KARYOTYPIC EVOLUTION;168
17;CHAPTER 9. Numerical Gonosomal Aberrations
;172
17.1;OVARIAN DYSGENESIS;172
17.2;Research preliminaries;172
17.3;I. Forms without mosaicism;173
17.4;II. Forms with mosaicism;192
18;CHAPTER 10. Numerical Gonosomal Aberrations;197
18.1;TESTICULAR DYSGENESIS;197
18.2;I. Forms without mosaicism;197
18.3;Nosological consequences;198
18.4;II. Forms with mosaicism;223
19;CHAPTER 11. Modifications of Gonosomal Structure;228
19.1;ABERRATIONS IN STRUCTURE OF THE X CHROMOSOME;228
19.2;Aberrations in the female;229
19.3;/. Varieties without mosaicism;238
19.4;STRUCTURAL ABERRATIONS OF THEY CHROMOSOME;239
20;CHAPTER 12. Hermaphroditism and Pseudo-hermaphroditism;243
20.1;I. HERMAPHRODITISM;243
20.2;II. PSEUDO-HERMAPHRODITISMS;256
21;CHAPTER 13. Monozygotic Twinning and Chromosome Aberrations (Heterokaryotic Monozygotism);261
21.1;XY–XO variety;261
21.2;XX–XO Variety;265
21.3;Diplo 21-tripIo 21 variety;267
22;CHAPTER 14. Mechanism and Effects of Numerical Gonosomal Aberrations;275
22.1;MECHANISM;275
22.2;A. Abnormal gametogenesis;275
22.3;B. Abnormal embryogenesis;285
22.4;EFFECTS OF GONOSOMAL ABERRATIONS;289
22.5;A. Physiological value of human X and Y chromosomes;289
22.6;B. Pathological effects of numerical anomalies of X and Y chromosomes;302
23;CHAPTER 15. Chromosome-linked Biochemical Effects;308
23.1;BIOCHEMICAL EFFECTS OF AUTOSOMAL ANOMALIES;308
23.2;SEX CHROMOSOME LINKED BIOCHEMICAL EFFECTS;318
24;References;324
25;Index;398