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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...

詳細記述

保存先:
書誌詳細
主要な著者: Behrend, Claudia (著者), Karimzad Hagh, Javad (著者), Mehdipour, Parvin (著者), Schott, Heinz (著者), Schwanitz, Gesa (著者)
団体著者: SpringerLink (Online service)
フォーマット: 電子媒体 eBook
言語:英語
出版事項: Cham : Springer International Publishing : Imprint: Springer, 2023.
版:2nd ed. 2023.
主題:
Medical genetics.
Diagnosis.
Chromosomes.
Genetic disorders.
Genetic counseling.
Medical Genetics.
Genetic Service.
オンライン･アクセス:https://doi.org/10.1007/978-3-031-10588-3
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目次:
  • 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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