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008 | 130919t20142014ne af ob 001 0 eng d | ||
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020 |
_a9780124046849 _q(electronic bk.) |
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020 |
_a0124046843 _q(electronic bk.) |
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020 |
_a1299833195 _q(ebk) |
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020 |
_a9781299833197 _q(ebk) |
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020 | _z9780124046313 | ||
020 | _z0124046312 | ||
029 | 1 |
_aDEBSZ _b399543473 |
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_aNLGGC _b370257812 |
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_aNZ1 _b15341971 |
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050 | 4 |
_aQH430 _b.L54 2014eb |
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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) |
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336 |
_atext _btxt _2rdacontent |
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337 |
_acomputer _bc _2rdamedia |
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338 |
_aonline resource _bcr _2rdacarrier |
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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 |
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650 | 7 |
_aMEDICAL _xClinical Medicine. _2bisacsh |
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650 | 7 |
_aMEDICAL _xDiseases. _2bisacsh |
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650 | 7 |
_aMEDICAL _xEvidence-Based Medicine. _2bisacsh |
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650 | 7 |
_aMEDICAL _xInternal Medicine. _2bisacsh |
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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 |