Screen LibraryThe principles of clinical cytogenetics /
In this thoroughly revised and expanded third edition of the highly praised classic, The Principles of Clinical Cytogenetics, a panel of hands-on experts update their descriptions of the basic concepts and interpretations involved in chromosome analysis to include the many advances that have occurre...
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| Corporate Authors: | |
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| Group Author: | ; |
| Published: |
Springer,
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| Publisher Address: | New York : |
| Publication Dates: | 2013. |
| Literature type: | eBook |
| Language: | English |
| Edition: | Third edition. |
| Subjects: | |
| Online Access: |
http://dx.doi.org/10.1007/978-1-4419-1688-4 |
| Summary: |
In this thoroughly revised and expanded third edition of the highly praised classic, The Principles of Clinical Cytogenetics, a panel of hands-on experts update their descriptions of the basic concepts and interpretations involved in chromosome analysis to include the many advances that have occurred in the field. Among the highlights are a full chapter devoted to advances in chromosome microarray, soon to become a standard of care in this field, as well as an update on chromosome nomenclature as reflected in ISCN 2009. |
| Carrier Form: | 1 online resource (561 p.) |
| ISBN: |
9781441916884 (electronic bk.) 1441916881 (electronic bk.) |
| Index Number: | QH431 |
| CLC: |
Q813.4 Q343 |
| Contents: |
Basic Concepts and Background. History of Clinical Cytogenetics / DNA, Chromosomes, and Cell Division / Human Chromosome Nomenclature: An Overview and Definition of Terms / Examining and Analyzing Chromosomes. Basic Cytogenetics Laboratory Procedures / The Essentials of Light Microscopy / Quality Control and Quality Assurance / Instrumentation in the Cytogenetics Laboratory / Clinical Cytogenetics. Autosomal Aneuploidy / Structural Chromosome Rearrangements / Sex Chromosomes, Sex Chromosome Disorders, and Disorders of Sex Development / The Cytogenetics of Infertility / Prenatal Cytogenetics / The Cytogenetics of Spontaneous Abortion / Chromosome Instability / Cancer Cytogenetics. The Cytogenetics of Hematologic Neoplasms / The Cytogenetics of Solid Tumors / Adjunct Technologies -- Fluorescence In Situ Hybridization (FISH) / Microarray-Based Cytogenetics / Beyond Chromosomes. Fragile X--A Family of Disorders: Changing Phenotype and Molecular Genetics / Genomic Imprinting and Uniparental Disomy / Genetic Counseling / |