
Başlık:
Human Chromosome Atlas Introduction to Diagnostics of Structural Aberrations
Yazar:
Behrend, Claudia. author.
ISBN:
9783031105883
Basım Bilgisi:
2nd ed. 2023.
Fiziksel Tanımlama:
XI, 388 p. 98 illus. online resource.
İçerik:
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.
Tüzel Kişi Ek Girişi:
Elektronik Erişim:
https://doi.org/10.1007/978-3-031-10588-3Kopya: