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Human Chromosome Atlas: Introduction to Diagnostics of Structural Aberrations

Human Chromosome Atlas: Introduction to Diagnostics of Structural Aberrations

Hardcover

Medical ReferenceBiology

Currently unavailable to order

ISBN10: 3031105877
ISBN13: 9783031105876
Publisher: Springer
Published: Mar 1 2023
Pages: 388
Weight: 2.20
Height: 1.02 Width: 7.17 Depth: 10.08
Language: English

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.

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Behrend, Claudia

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Medical Reference