Claudia Behrend Head of the private "Institute of Medical Genetics", Düsseldorf, Medical specialist in gynaecology and medical genetics. This institute of applied Human Genetics focuses on genetic counselling and diagnostic investigations of prenatal and postnatal cases including the analyses of polar bodies. Molecular, molecular-cytogenetic and cytogenetic techniques are applied and one focus of the institute is the improvement and further development of relevant investigation methods.

Claudia Behrend is in cooperation with a number of institutes of Human Genetics in research projects and is regularly publishing the results of her investigations.

Dr. Javad Karimzad Hagh Collaborator of Claudia Behrend at the "Institute of Medical Genetics", Düsseldorf, and founder of an Institute of Applied Human Genetics in Tehran, Iran.

Besides diagnostic investigations in different fields of cytogenetics and molecular genetics, genetic counselling is offered. The author has published a number of articles in this field of research in international journals. Besides, he is engaged in the field of ethical questions about Human Genetics in Iran and he developed a project on Human Genetics and the Islam.

Prof. Parvin Mehdipour is a full Professor at the Tehran University of Medical Sciences. She is the editor of books covering various fields of Human Genetics, 7 of them in English and 3 in Persian (Farsi). Within the last 10 years, she has organized two international Cancer Genetics congresses in Tehran and 2 workshops. She is engaged in collaborations and co-operations with European countries (Germany, UK). Besides, she is member of several editorial boards of international journals.

The research focus of Prof. Mehdipour is on cancer genetics and tumor biology including the following paradigms: cancer evolution, cancer cytogenetics, cancer genomics, cancer biomarkers, cancer early detection, circulating tumor cells in the neoplastic disorders, cell migration, metastasis, and cancer hypothesis.

Prof. Dr. rer.nat. Gesa Schwanitz is a Professor Emeritus of the Institute of Human Genetics in Bonn, Germany. She established the department of cytogenetics at the University of Erlangen-Nuernberg (Germany). After her habilitation, she was offered a professorship at the Institute of Human Genetics, University in Bonn, initially as a member of the medical faculty, later on also of the faculty of natural science. The department of cytogenetics was established and extended, additionally molecular cytogenetic investigation methods were developed. From the very beginning of her professional activity, Prof. Schwanitz established a close cooperation with colleagues from different national and international institutes of human genetics. As an emeritus professor she continues as a member of the Institute of Human Genetics in Bonn and is in charge of the continuing training of medical doctors and biologists in cytogenetics. She performs practical work in the field of diagnostics of chromosomal syndromes leading to a continuance of international standards of chromosome research.

Prof. emeritus Dr.med. Dr.phil. Heinz Schott was Head of the Institute of the History of Medicine (Medizinhistorisches Institut) at the University of Bonn/Germany from 1987 to 2016. His research focuses are: history of psychiatry and psychotherapy; history of early modern medicine and natural philsophy (paracelsianism in particular); concepts of medicine about 1800 (mesmerism and romanticism in particular); history of medical anthropolgy. His magnum opus Magie der Natur, Historische Variationen über ein Motiv der Heilkunst was published in 2014. Since 2003 he is member of the German National Academy of Sciences Leoopldina.

Provides guidance for the analysis of the human karyotype

Offers a practical approach to modern cytogenetics

Is richly illustrated with more than 200 diagrams

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