Human Chromosome Atlas : Introduction to Diagnostics of Structural Aberrations /
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 f...
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| Main Authors: | , , , , |
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| Corporate Author: | |
| Format: | Book |
| Language: | English |
| Published: |
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Springer International Publishing : Imprint: Springer,
2023
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| Edition: | 2nd ed. 2023 |
| Subjects: | |
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Table of Contents:
- Introduction: Social Attitude towards Disabled People in Different Areas and Cultures
- Role of Ethics Committees
- International Quality Control in the Field of Diagnostics
- Structural Chromosom Abarrations
- Mutations in Non-coding DNA Regions. Single Case Presentations of Intrachromosomal Rearrangements: Inversions
- Deletions
- Duplications
- Ring Chromosomes
- Isochromosomes. Single Case Presentations of Interchromosomal Rearrangements: Translocations
- Insertions
- Complex Chromosome Rearrangements (CCR)
- Marker Chromosomes
- Cases of Intra- and Interchromosomal Mutation in Polymorphic Regions. Guidelines to Clinical Questions and Practical Approaches: Genetic Counselling Procedures
- Life of Persons with Chromosomal Disorders
- Support Groups for Chromosomal Disorders
- Diagnosis and Therapy
- Outlook