Cargando…

Benign and Pathological Chromosomal Imbalances : Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and Counseling /

Benign & 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...

Descripción completa

Detalles Bibliográficos
Clasificación:Libro Electrónico
Autor principal: Liehr, Thomas, 1965- (Autor)
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Amsterdam : Elsevier/AP, [2014]
Temas:
Acceso en línea:Texto completo

MARC

LEADER 00000cam a2200000 i 4500
001 SCIDIR_ocn861527644
003 OCoLC
005 20231117044924.0
006 m o d
007 cr cn|||||||||
008 130919t20142014ne af ob 001 0 eng d
040 |a E7B  |b eng  |e rda  |e pn  |c E7B  |d N$T  |d NEH  |d OPELS  |d YDXCP  |d DEBSZ  |d WAU  |d EBLCP  |d IDEBK  |d UKMGB  |d CDX  |d COO  |d VGM  |d OCLCF  |d OCLCQ  |d NKT  |d OCLCQ  |d CASUM  |d MERUC  |d U3W  |d D6H  |d CHVBK  |d OCLCQ  |d OCLCO  |d WYU  |d OCLCO  |d DCT  |d OCLCO  |d OCLCQ  |d OCLCA  |d S2H  |d OCLCO  |d UX1  |d OCLCO  |d OCLCQ  |d OCL  |d OCLCO 
016 7 |a 101621098  |2 DNLM 
016 7 |a 016488506  |2 Uk 
019 |a 857713146  |a 858229427  |a 1011165359  |a 1235116984 
020 |a 9780124046849  |q (electronic bk.) 
020 |a 0124046843  |q (electronic bk.) 
020 |a 1299833195  |q (ebk) 
020 |a 9781299833197  |q (ebk) 
020 |a 0124046312 
020 |a 9780124046313 
020 |z 9780124046313 
020 |z 0124046312 
024 3 |a 9780124046313 
035 |a (OCoLC)861527644  |z (OCoLC)857713146  |z (OCoLC)858229427  |z (OCoLC)1011165359  |z (OCoLC)1235116984 
050 4 |a QH430  |b .L54 2014eb 
060 4 |a 2013 J-859 
060 4 |a QU 500 
072 7 |a HEA  |x 039000  |2 bisacsh 
072 7 |a MED  |x 014000  |2 bisacsh 
072 7 |a MED  |x 022000  |2 bisacsh 
072 7 |a MED  |x 112000  |2 bisacsh 
072 7 |a MED  |x 045000  |2 bisacsh 
082 0 4 |a 616.042 
100 1 |a Liehr, Thomas,  |d 1965-  |e author. 
245 1 0 |a Benign and Pathological Chromosomal Imbalances :  |b Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and Counseling /  |c Thomas Liehr. 
246 1 4 |a Benign & Pathological Chromosomal Imbalances 
264 1 |a Amsterdam :  |b Elsevier/AP,  |c [2014] 
264 4 |c �2014 
300 |a 1 online resource (xix, 199 pages, 5 unnumbered pages of plates) :  |b illustrations (some color) 
336 |a text  |b txt  |2 rdacontent 
337 |a computer  |b c  |2 rdamedia 
338 |a online resource  |b cr  |2 rdacarrier 
504 |a Includes bibliographical references and index. 
588 0 |a Online resource; title from PDF title page (ebrary, viewed September 19, 2013). 
520 |a Benign & 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 |a Front 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 |a 2.2. 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 |a 4.4. 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 |a A.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 |a Genetics. 
650 0 |a Variation (Biology) 
650 0 |a Chromosome abnormalities. 
650 0 |a Genetic counseling. 
650 1 2 |a DNA Copy Number Variations  |0 (DNLM)D056915 
650 2 |a Genetics  |0 (DNLM)D005823 
650 2 2 |a Chromosome Aberrations  |0 (DNLM)D002869 
650 2 2 |a Genetic Counseling  |0 (DNLM)D005817 
650 6 |a G�en�etique.  |0 (CaQQLa)201-0069234 
650 6 |a Variation (Biologie)  |0 (CaQQLa)201-0005929 
650 6 |a Aberrations chromosomiques.  |0 (CaQQLa)201-0022153 
650 6 |a Conseil g�en�etique.  |0 (CaQQLa)201-0039132 
650 7 |a genetics.  |2 aat  |0 (CStmoGRI)aat300138822 
650 7 |a HEALTH & FITNESS  |x Diseases  |x General.  |2 bisacsh 
650 7 |a MEDICAL  |x Clinical Medicine.  |2 bisacsh 
650 7 |a MEDICAL  |x Diseases.  |2 bisacsh 
650 7 |a MEDICAL  |x Evidence-Based Medicine.  |2 bisacsh 
650 7 |a MEDICAL  |x Internal Medicine.  |2 bisacsh 
650 7 |a Genetic counseling  |2 fast  |0 (OCoLC)fst00940001 
650 7 |a Chromosome abnormalities  |2 fast  |0 (OCoLC)fst00860059 
650 7 |a Genetics  |2 fast  |0 (OCoLC)fst00940117 
650 7 |a Variation (Biology)  |2 fast  |0 (OCoLC)fst01164189 
655 4 |a Internet Resources. 
776 0 8 |i Print version:  |a Liehr, Thomas, 1965-  |t Benign and pathological chromosomal imbalances.  |d Amsterdam : Elsevier/AP, [2014]  |z 9780124046313  |w (OCoLC)800037737 
856 4 0 |u https://sciencedirect.uam.elogim.com/science/book/9780124046313  |z Texto completo