Main description:

Now in its second edition, this atlas serves as an easy-to-use diagnostic guide for the analysis of the human karyotype.

Split in four parts, it starts with a comprehensive introduction covering the molecular cytogenetic basics, the role of ethic committees and international quality control in the field of diagnostics. The main parts II and III show the spectrum of different types of chromosomal abnormalities by a combination of karyogram and ideogram. They compare the significance of different banding techniques, give the karyotype formula and describe morphological peculiarities of each case presented. The final part provides a detailed description of non-coding DNA variants and focuses on potential problems in the detection of aberrations. It also mentions necessary additional investigations and peculiarities to be considered when counselling carriers of a chromosomal aberration or their relatives.

Given its comprehensive scope and practical approach, this atlas is an indispensable resource for researchers, clinicians and practitioners working in the field of cytogenetics and clinical genetics.

Contents:

Contents

Preface

Part I: Introduction

1 Social Attitude towards Disabled People - Historical and Cultural Aspects

1.1 Monstrosities: Consequence of Sin versus Play of Nature

1.2 "Cripples": The Power of Imagination, Crippled Mind and Show Business

1.3 Changing Social Attitude

2 The Role of Ethics Committees

3 Quality Control in the Field of Diagnostics

4 Types of Chromosome Mutations

4.1 Intrachromosomal Rearrangements

4.1.1 Inversions

4.1.1.1 Pericentric Inversions

4.1.1.2 Paracentric Inversions

4.1.2 Deletions

4.1.3 Duplications

4.1.4 Ring Chromosomes

4.1.5 Isochromosomes

4.2 Interchromosomal Rearrangements

4.2.1 Translocations

4.2.1.1 Reciprocal Translocations

4.2.1.2 Robertsonian Translocations or Centric Fusions

4.2.2 Insertions

4.2.3 Complex Chromosome Rearrangements (CCR)

4.2.4 Marker Chromosomes (Chromosome Derivates)

5 Heteromorphisms

5.1 Euchromatic Variants

5.2 Satellites

5.3 Nucleolus Organising Regions (NOR-Region)

5.4 Pericentromeric Heterochromatin

5.5 Centromere

5.6 Heterochromatic Blocks

Part II: Single Case Presentations of Intrachromosomal Rearrangements

6 Inversions

7 Deletions

8 Duplications

9 Ring Chromosomes

10 Isochromosomes

Part III: Single Case Presentations of Interchromosomal Rearrangements

11 Translocations

12 Insertions

13 Complex Chromosome Rearrangements (CCR)

14 Marker Chromosomes

15 Mutations in Non-Coding DNA Regions

15.1 Euchromatic Variants

15.2 Satellites

15.3 Nucleolus Organising Regions (NOR-Regions)

15.4 Pericentromeric Heterochromatin

15.5 Centromeres

15.6 Heterochromatic Blocks

Part IV: Guidelines

16 Genetic Counseling Procedures

16.1 Overview

16.2 Case Reports

16.2.1 Carrier of Unbalanced Translocation 16/21 de novo

16.2.2 Familial Translocation Y/22

16.2.3 Familial Translocation 4/22

16.2.4 Homologous Translocation 2/2 de novo

16.2.5 Mosaic Translocation Trisomy 21

17 Life Courses

17.1 Overview

17.2 Case Reports

17.2.1 Carrier of Interstitial Deletion 9q de novo

17.2.2 Carrier of Unbalanced Translocation 14/21

17.2.3 Carrier of a Duplication 3q derived from a Familial Translocation

17.2.4 Carrier of an Interstitial Duplication 3q de novo

17.2.5 Carrier of a Terminal Deletion 18q de novo

18 Support Groups

19 Diagnostic Procedere

20 Outlook

References

Acknowledgement