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Human Chromosome Atlas - Introduction to Diagnostics of Structural Aberrations (Hardcover, 2nd ed. 2023)
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Human Chromosome Atlas - Introduction to Diagnostics of Structural Aberrations (Hardcover, 2nd ed. 2023)
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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.
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