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.
Author(s): Claudia Behrend, Javad Karimzad Hagh, Parvin Mehdipour, Heinz Schott, Gesa Schwanitz
Edition: 2
Publisher: Springer
Year: 2023
Language: English
Pages: 384
City: Cham
Preface
Acknowledgement
Contents
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: Heteromorphismes: Mutations in Non-Coding-DNA Regions
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
II: Single Case Presentations of Intrachromosomal Rearrangements
6: Inversions
6.1 Pericentric Inversions
6.2 Paracentric Inversions
6.3 Summary
7: Deletions
7.1 Deletions
7.2 Summary
8: Duplications
8.1 Duplications
8.2 Summary
9: Ring Chromosomes
9.1 Ring Chromosomes
9.2 Summary
10: Isochromosomes
10.1 Isochromosomes
10.2 Summary
III: Single Case Presentations of Interchromosomal Rearrangements
11: Translocations
11.1 Reciprocal Translocations
11.2 Summary
11.3 Robertsonian Translocations
11.4 Summary
12: Insertions
12.1 Insertions
12.2 Summary
13: Complex Chromosome Rearrangements (CCR)
13.1 Complex Chromosome Rearrangements (CCR)
13.2 Summary
14: Marker Chromosomes
14.1 Marker Chromosomes
14.2 Summary
15: Heteromorphismes: 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
IV: Guidelines
16: Genetic Counselling 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 Homologeous 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 Procedure
20: Outlook
Appendix
Bibliography
