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001 978-1-4419-1688-4
003 DE-He213
005 20140220082802.0
007 cr nn 008mamaa
008 130327s2013 xxu| s |||| 0|eng d
020 _a9781441916884
_9978-1-4419-1688-4
024 7 _a10.1007/978-1-4419-1688-4
_2doi
050 4 _aQH441.5
072 7 _aMFN
_2bicssc
072 7 _aMED107000
_2bisacsh
072 7 _aSCI029000
_2bisacsh
082 0 4 _a611.01816
_223
100 1 _aGersen, Steven L.
_eeditor.
245 1 4 _aThe Principles of Clinical Cytogenetics
_h[electronic resource] /
_cedited by Steven L. Gersen, Martha B. Keagle.
250 _a3rd ed. 2013.
264 1 _aNew York, NY :
_bSpringer New York :
_bImprint: Springer,
_c2013.
300 _aX, 569 p. 207 illus., 107 illus. in color.
_bonline resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
347 _atext file
_bPDF
_2rda
505 0 _aHistory of Clinical Cytogenetics -- DNA, Chromosomes, and Cell Division -- Human Chromosome Nomenclature: An Overview and Definition of Terms -- Basic Cytogenetics Laboratory Procedures -- The Essentials of Light Microscopy -- Quality Control & Quality Assurance -- Instrumentation in the Cytogenetics Laboratory -- 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 -- The Cytogenetics of Hematologic Neoplasms -- The Cytogenetics of Solid Tumors -- Fluorescence in situ Hybridization (FISH) -- Microarray-Based Cytogenetics -- Fragile X: A Family of Disorders: Changing Phenotype and Molecular Genetics -- Genomic Imprinting and Uniparental Disomy -- Genetic Counseling.
520 _aIn 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. Other features include an update on automation to reflect the current state of the art, an update on hematopoietic neoplasms to reflect the new WHO guidelines, and updates on all regulatory changes that have been implemented. Cutting edge and readily accessible, The Principles of Clinical Cytogenetics, Third Edition offers physicians who depend on the cytogenetics laboratory for the diagnosis of their patients, students in cytogenetics programs, graduate and medical students studying for board examinations, cytogenetics technologists, and cytogeneticists a clear understanding of what happens in the cytogenetics laboratory to facilitate accurate and timely diagnoses.
650 0 _aMedicine.
650 0 _aHuman genetics.
650 0 _aHematology.
650 0 _aOncology.
650 0 _aPathology.
650 1 4 _aBiomedicine.
650 2 4 _aCytogenetics.
650 2 4 _aHuman Genetics.
650 2 4 _aPathology.
650 2 4 _aHematology.
650 2 4 _aOncology.
700 1 _aKeagle, Martha B.
_eeditor.
710 2 _aSpringerLink (Online service)
773 0 _tSpringer eBooks
776 0 8 _iPrinted edition:
_z9781441916877
856 4 0 _uhttp://dx.doi.org/10.1007/978-1-4419-1688-4
912 _aZDB-2-SBL
999 _c94442
_d94442