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019 _a857713146
_a858229427
020 _a9780124046849
_q(electronic bk.)
020 _a0124046843
_q(electronic bk.)
020 _a1299833195
_q(ebk)
020 _a9781299833197
_q(ebk)
020 _z9780124046313
020 _z0124046312
029 1 _aDEBSZ
_b399543473
029 1 _aNLGGC
_b370257812
029 1 _aNZ1
_b15341971
050 4 _aQH430
_b.L54 2014eb
082 0 4 _a616.042
049 _aTEFA
100 1 _aLiehr, Thomas,
_d1965-
_eauthor.
245 1 0 _aBenign and pathological chromosomal imbalances
_h[recurso electrónico] :
_bmicroscopic and submicroscopic copy number variations (CNVs) in genetics and counseling /
_cThomas Liehr.
246 1 4 _aBenign & pathological chromosomal imbalances
264 1 _aAmsterdam :
_bElsevier/AP,
_c[2014]
264 4 _c2014
300 _a1 online resource (xix, 199 pages, 5 unnumbered pages of plates) :
_billustrations (some color)
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
504 _aIncludes bibliographical references and index.
588 0 _aOnline resource; title from PDF title page (ebrary, viewed September 19, 2013).
520 _aBenign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy. Shows how to define the inheritance and formation of cytogenetically visible copy number variations using cytogenetic and molecular approaches for genetic diagnostics, patient counseling, and treatment plan development. Uniquely classifies all known variants by chromosomal origin, saving time and money for researchers in reviewing benign and pathologic variants before costly molecular methods are used to investigate. Side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques.
505 0 _aFront Cover; Benign and Pathological Chromosomal Imbalances -- Microscopic and SubmicroscopicCopy Number Variations (CNVs) inGenetics and Counseling; Copyright; DISCLAIMER; CONTENTS; BIOGRAPHY; ABBREVIATIONS; FOREWORD; ACKNOWLEDGMENTS; Chapter 1 -- Introduction; 1.1. THE PROBLEM; 1.2. FREQUENCY AND CHROMOSOMAL ORIGIN OF CYTOGENETICALLY VISIBLE COPY NUMBER VARIANTS (CG-CNVS) WITHOUT CLINICAL CONSEQUENCES; 1.3. PRACTICAL MEANING OF CG-CNVS IN DIAGNOSTICS AND RESEARCH; 1.4. SUBMICROSCOPIC CNVS (MG-CNVS); Chapter 2 -- CG-CNVs: What Is the Norm?; 2.1. ACROCENTRIC CHROMOSOMES' SHORT ARM VARIANTS.
505 8 _a2.2. VARIANTS OF THE CENTROMERIC REGIONS2.3. VARIANTS OF NONCENTROMERIC HETEROCHROMATIN; 2.4. UNBALANCED CHROMOSOME ABNORMALITIES (UBCAS) WITHOUT CLINICAL CONSEQUENCES; 2.5. SMALL SUPERNUMERARY MARKER CHROMOSOMES (SSMCS); 2.6. EUCHROMATIC VARIANTS (EVS); 2.7. GONOSOMAL DERIVED CHROMATIN; 2.8. MG-CNVS; Chapter 3 -- Inheritance of CG-CNVs; 3.1. FAMILIAL CG-CNVS; 3.2. DE NOVO CG-CNVS; 3.3. MG-CNVS; Chapter 4 -- Formation of CG-CNVs; 4.1. ACROCENTRIC CHROMOSOMES' SHORT-ARM VARIANTS; 4.2. VARIANTS OF THE CENTROMERIC REGIONS; 4.3. VARIANTS OF NONCENTROMERIC HETEROCHROMATIN.
505 8 _a4.4. UNBALANCED CHROMOSOME ABNORMALITIES (UBCAS)4.5. SMALL SUPERNUMERARY MARKER CHROMOSOMES (SSMCS); 4.6. EUCHROMATIC VARIANTS (EVS); 4.7. GONOSOMAL-DERIVED CHROMATIN; 4.8. MG-CNVS; Chapter 5 -- Types of CG-CNVs; 5.1. HETEROCHROMATIC CG-CNVS; 5.2. EUCHROMATIC CG-CNVS; 5.3. SUBMICROSCOPIC CNVS (MG-CNVS); Chapter 6 -- CG-CNVs in Genetic Diagnostics and Counseling; 6.1. CG-CNVS IN DIAGNOSTICS; 6.2. CG-CNVS AND MG-CNVS IN REPORTING AND GENETIC COUNSELING; Chapter 7 -- Online Resources; 7.1. CG-CNVS; 7.2. MG-CNVS; Appendix -- Summary of CG-CNVs by Chromosome; A.1 CHROMOSOME 1; A.2 CHROMOSOME 2; A.3 CHROMOSOME 3.
505 8 _aA.4 CHROMOSOME 4A.5 CHROMOSOME 5; A.6 CHROMOSOME 6; A.7 CHROMOSOME 7; A.8 CHROMOSOME 8; A.9 CHROMOSOME 9; A.10 CHROMOSOME 10; A.11 CHROMOSOME 11; A.12 CHROMOSOME 12; A.13 CHROMOSOME 13; A.14 CHROMOSOME 14; A.15 CHROMOSOME 15; A.16 CHROMOSOME 16; A.17 CHROMOSOME 17; A.18 CHROMOSOME 18; A.19 CHROMOSOME 19; A.20 CHROMOSOME 20; A.21 CHROMOSOME 21; A.22 CHROMOSOME 22; A.23 X-CHROMOSOME; A.24 Y-CHROMOSOME; A.25 SHORT ANALYSIS OF THE SUMMARY OF CG-CNVS BY CHROMOSOME; REFERENCES; INDEX; Color plates.
650 0 _aGenetics.
650 0 _aVariation (Biology)
650 1 2 _aDNA Copy Number Variations.
650 2 2 _aChromosome Aberrations.
650 2 2 _aGenetic Counseling.
650 7 _aHEALTH & FITNESS
_xDiseases
_xGeneral.
_2bisacsh
650 7 _aMEDICAL
_xClinical Medicine.
_2bisacsh
650 7 _aMEDICAL
_xDiseases.
_2bisacsh
650 7 _aMEDICAL
_xEvidence-Based Medicine.
_2bisacsh
650 7 _aMEDICAL
_xInternal Medicine.
_2bisacsh
650 7 _aGenetics.
_2fast
_0(OCoLC)fst00940117
650 7 _aVariation (Biology)
_2fast
_0(OCoLC)fst01164189
655 4 _aElectronic books.
655 0 _aElectronic books.
776 0 8 _iPrint version:
_aLiehr, Thomas, 1965-
_tBenign and pathological chromosomal imbalances.
_dAmsterdam : Elsevier/AP, [2014]
_z9780124046313
_w(OCoLC)800037737
856 4 0 _zLibro electrónico
_3ScienceDirect
_uhttp://148.231.10.114:2048/login?url=http://www.sciencedirect.com/science/book/9780124046313
596 _a19
942 _cLIBRO_ELEC
999 _c207111
_d207111