Rövid leírás:

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 andpractical approach, this atlas is an indispensable resource for researchers, clinicians and practitioners working in the field of cytogenetics and clinical genetics.

Hosszú leírás:

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 show the spectrum of different types of chromosomal abnormalities by a combination of karyogram and ideogram. They compare the significance of different banding techniques, give the karyotype formula and describe morphological peculiarities of each case presented. The final part provides a detailed description of non-coding DNA variants and focuses on potential problems in the detection of aberrations. It also mentions necessary additional investigations and peculiarities to be considered when counselling carriers of a chromosomal 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.

Tartalomjegyzék:

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.