Human Chromosome Atlas: Introduction to Diagnostics of Structural Aberrations

This atlas is a valuable diagnostic guide for analyzing the human karyotype, divided into four parts: an introduction to molecular cytogenetics, a comparison of banding techniques, a description of chromosomal abnormalities, and a discussion of non-coding DNA variants. It is an essential resource for researchers, clinicians, and practitioners in cytogenetics and clinical genetics.

Format: Hardback
Length: 388 pages
Publication date: 01 March 2023
Publisher: Springer International Publishing AG

Now in its second edition, this atlas serves as an easy-to-use diagnostic guide for the analysis of the human karyotype. Split into 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.

Weight: 1080g
Dimension: 182 x 262 x 26 (mm)
ISBN-13: 9783031105876
Edition number: 2nd ed. 2023