Human chromosome atlas : introduction to diagnostics of structural aberrations / Claudia Behrend [and four others].

Format:

Book

Author/Creator:

Behrend, Claudia, author.

Language:

English

Subjects (All):

Human chromosomes.

Physical Description:

1 online resource (385 pages)

Edition:

Second edition.

Place of Publication:

Cham, Switzerland : Springer, 2023.

Summary:

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, demonstrate the spectrum of the different types of chromosome abnormalities by a combination of karyogram and ideogram, it compares the expressiveness of different banding techniques, and it gives the karyotype formula and describes morphological peculiarities of each presented case. The final part, provides a detailed description of variants of non-coding DNA and focuses on potential problems in detecting aberrations and mentions necessary additional investigations and peculiarities, which have to be taken into account when counseling carriers of a chromosome 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.

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.

Notes:

Includes bibliographical references.

Description based on print version record.

Other Format:

Print version: Behrend, Claudia Human Chromosome Atlas

ISBN:

3-031-10588-5