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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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Bibliographic Details
Main Authors: Behrend, Claudia, Karimzad Hagh, Javad (Author), Mehdipour, Parvin (Author), Schott, Heinz (Author)
Format: eBook
Language:English
Published: Cham Springer International Publishing 2023, 2023
Edition:2nd ed. 2023
Subjects:
Medical Genetics
Genetic Service
Genetic Disorders
Diagnosis
Chromosomes
Genetic Counseling
Online Access:
Collection: Springer eBooks 2005- - Collection details see MPG.ReNa
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

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