UID:
almafu_9959328825202883
Format:
1 online resource (xiii, 647 pages)
ISBN:
9781118412565
,
1118412567
,
9781118412572
,
1118412575
,
9781118412602
,
1118412605
,
1118912497
,
9781118912492
,
9781118412558
,
1118412559
Content:
"This guide discusses chromosomal abnormalities and how best to report and communicate lab findings in research and clinical settings. Providing a standard approach to writing cytogenetic laboratory reports, the guide further covers useful guidance on implementing International System for Human Cytogenetic Nomenclature in reports. Part one of the guide explores chromosomal, FISH, and microarray analysis in constitutional cytogenetic analyses, while part two looks at acquired abnormalities in cancers. Both sections provide illustrative examples of chromosomal abnormalities and how to communicate these findings in standardized laboratory reports"--Provided by publisher.
Note:
Machine generated contents note: Section 1 Chromosome Analysis -- 1.Components of a standard cytogenetics report, normal results and culture failures -- 1.1.Components of a standard cytogenetics report -- 1.2. Prenatal normal results -- 1.3. Neonatal normal results -- 1.4. Normal variants in the population -- 1.5. Disclaimers and recommendations -- 1.6. Culture failures -- 1.7. Contamination -- 2. Mosaicism -- 2.1. Normal results with 30-50 cells examined -- 2.2. Normal and abnormal cell lines -- 2.3. Two or more abnormal cell lines -- 3. Autosomal trisomies -- prenatal and livebirths -- 3.1. Introduction -- 3.2. Trisomy 21 [--] Down syndrome -- 3.3. Mosaic trisomy 21 [--] mosaic Down syndrome -- 3.4. Trisomy 13 [--] Patau syndrome -- 3.5. Trisomy 18 [--] Edwards syndrome -- 3.6. Trisomy 8 [--] mosaic -- 3.7. Trisomy 9 [--] mosaic -- 3.8. Trisomy 20 [--] mosaic, prenatal -- 3.9. Trisomy 22 [--] mosaic, prenatal -- 4. Translocations -- 4.1. Reciprocal (balanced) translocations -- 4.2. Robertsonian translocations -- 5. Inversions and recombinant chromosomes -- 5.1. Risks of spontaneous abortions and liveborn abnormal offspring -- 5.2. Pericentric inversions and their recombinants -- 5.3. Paracentric inversions and their recombinants -- 6. Visible deletions, duplications and insertions -- 6.1. Definitions -- 6.2. Visible duplications -- 6.3. Balanced insertions -- 7. Unidentifiable marker chromosomes, derivative chromosomes, chromosomes with additional material and rings -- 7.1. Marker chromosomes -- 7.2. Derivative chromosomes -- 7.3. Chromosomes with additional material -- 7.4. Ring chromosomes -- 7.5. Homogenously staining regions -- 8. Isochromosomes, dicentric chromosomes and pseudodicentric chromosomes -- 8.1. Isochromosomes/dicentric chromosomes -- 8.2. Pseudodicentric chromosomes -- 9.Composite karyotypes and other complex rearrangements -- 9.1.Composite karyotypes -- 9.2.Complex rearrangements -- 10. Sex chromosome abnormalities -- 10.1.X chromosome aneuploidies -- female phenotypes -- 10.2.X and Y chromosome aneuploidies -- male phenotypes -- 10.3.X chromosome structural abnormalities -- 10.4.Y chromosome structural abnormalities -- 10.5.46,XX males and 46,XY females -- 10.6.X chromosome translocations -- 11. Fetal demises/spontaneous abortions -- 11.1. Aneuploid rate -- 11.2. Confined placental mosaicism -- 11.3. Hydatidiform moles -- 11.4. Monosomy X in a fetus -- 11.5. Trisomies in a fetus -- 11.6. Double trisomy -- 11.7. Triploidy -- 11.8. Tetraploidy -- 12. Uniparental disomy -- 12.1. Uniparental disomy of chromosome 14 -- 12.2. Uniparental disomy of chromosome 15 -- 12.3. Uniparental disomy of chromosome 11p15 -- Section 2 Fluorescence In Situ Hybridization (FISH) Analysis -- 13. Metaphase analysis -- 13.1. Introduction -- 13.2. Reporting normal results -- 13.3.Common disclaimers -- 13.4. Microdeletions -- 13.5. Microduplications -- 13.6. Fluorescence in situ hybridization for chromosome identification -- 13.7. Subtelomere fluorescence in situ hybridization analysis -- 14. Interphase analysis -- 14.1. Introduction -- 14.2. Example report of interphase analysis -- 14.3.Common disclaimers -- 14.4. Reporting normal results -- 14.5. Abnormal prenatal/neonatal results -- 14.6. Abnormal product of conception FISH abnormalities -- 14.7. Molar pregnancies -- 14.8. Preimplantation genetic diagnosis -- 15. Integrated chromosome and FISH analyses -- 15.1. ISCN rules and reporting normal results by chromosomes and FISH -- 15.2. ISCN rules and reporting abnormal chromosomes and FISH -- 15.3. ISCN rules and reporting of chromosomes and subtelomere FISH -- Section 3 Chromosomal Microarray Analysis (CMA) -- 16. Bacterial artificial chromosome, oligoarray and single nucleotide polymorphism array methodologies for analysis -- 16.1. Introduction -- 16.2. Clinical utility of chromosomal microarray analysis -- 16.3. Guidelines for classification states -- 16.4. ISCN rules and reporting of normal results -- 16.5.Comments, disclaimers and recommendations -- 17. Microarray abnormal results -- 17.1. Reporting of abnormal results -- 17.2. Loss or gain of a single chromosome -- 17.3. Loss or gain of a whole chromosome complement -- 17.4. Microdeletions -- 17.5. Microduplications -- 17.6. Derivative chromosomes -- 17.7. Variants of unknown significance -- 17.8. Uniparental disomy/loss of heterozygosity/regions of homozygosity -- 17.9. Mosaicism -- 17.10.Common comments in abnormal reports -- 17.11. Microarrays with concurrent FISH studies and/or chromosome studies -- 17.12. Microarrays with concurrent parental studies -- 17.13. Preimplantation genetic diagnosis testing -- 17.14. Non-invasive prenatal testing -- 18. Pathogenic chromosomal microarray copy number changes by chromosome order -- 18.1. Chromosome 1 -- 18.2. Chromosome 2 -- 18.3. Chromosome 3 -- 18.4. Chromosome 4 -- 18.5. Chromosome 5 -- 18.6. Chromosome 7 -- 18.7. Chromosome 8 -- 18.8. Chromosome 14 -- 18.9. Chromosome 15 -- 18.10. Chromosome 16 -- 18.11. Chromosome 17 -- 18.12. Chromosome 19 -- 18.13. Chromosome 22 -- 18.14. Chromosome X -- 19. Integrated reports with cytogenetics, FISH and microarrays -- 19.1. Reporting of a deletion -- 19.2. Reporting of a supernumerary chromosome -- 19.3. Reporting of an unbalanced translocation -- deletion/duplication -- 19.4. Reporting of multiple abnormal cell lines -- Section 1 Chromosome Analysis -- 20. Introduction -- 20.1. Description of World Health Organization classification for hematological malignancies -- 20.2. Description of different tumor types with significant cytogenetic abnormalities -- 20.3. Set-up and analysis of specific cultures for optimal results -- 20.4. Nomenclature rules for normal and simple abnormal results -- 20.5.Common report comments for hematological malignancies -- 21. Results with constitutional or other non-neoplastic abnormalities -- 21.1. Possible constitutional abnormalities observed -- 21.2. Age-related abnormalities -- 21.3. Non-clonal aberrations -- 21.4. No growth and poor growth -- 22. Cytogenetic abnormalities in myeloid disorders -- 22.1. Introduction to myeloid disorders -- 22.2. Individual myeloid abnormalities by chromosome order -- 23. Cytogenetic abnormalities in lymphoid disorders -- 23.1. Introduction to lymphoid disorders -- 23.2. Hyperdiploidy and hypodiploidy -- 23.3. Individual lymphoid abnormalities by chromosome order -- 24.Common biphenotypic abnormalities and secondary changes -- 24.1. Translocation (4;11)(q21;q23) -- 24.2. Del(9q) -- 24.3. Translocation (11;19) (q23;p 13.3) -- 24.4. Del(12)(p11.2p13) -- 24.5. Trisomy 15 -- 24.6.i(17q) -- 25. Reporting complex abnormalities and multiple cell lines -- 25.1. Stemline and sideline abnormalities -- 25.2. Unrelated abnormal clones -- 25.3.Composite karyotypes -- 25.4. Double minute chromosomes -- 25.5. Modal ploidy numbers -- 25.6. Multiple abnormal cell lines indicative of clonal evolution -- 26. Breakage disorders -- 26.1. Ataxia telangiectasia -- 26.2. Bloom syndrome -- 26.3. Fanconi anemia -- 26.4. Nijmegen syndrome -- 27. Cytogenetic abnormalities in solid tumors -- 27.1. Clear cell sarcoma -- 27.2. Chondrosarcoma -- 27.3. Ewing sarcoma -- 27.4. Liposarcoma -- 27.5. Neuroblastoma -- 27.6. Rhabdomyosarcoma -- 27.7. Synovial sarcoma -- 27.8. Wilms tumor -- Section 2 Fluorescence In Situ Hybridization (FISH) Analysis -- 28. Introduction to FISH analysis for hematological disorders and solid tumors -- 28.1. General results -- 28.2. Bone marrow transplantation results -- 29. Recurrent FISH abnormalities in myeloid disorders -- 29.1. Individual abnormalities in myeloid disorders by chromosome order -- 29.2. Biphenotypic and therapy-related abnormalities -- 29.3. Panels of probes -- 30. Recurrent FISH abnormalities in lymphoid disorders -- 30.1. Individual abnormalities in lymphoid disorders by chromosome order -- 30.2. Panels of probes -- 31. Integrated reports with cytogenetics and FISH in hematological malignancies -- 31.1. Translocation (9;22) with BCR/ABL
,
31.4.Complex abnormalities with ALL FISH panel -- 31.5.Complex abnormalities with MM FISH panel -- 31.6.Complex abnormalities with AML FISH panel -- 31.7.Complex abnormalities with AML FISH panel in therapy-related disease -- 32. Recurrent FISH abnormalities in solid tumors using paraffin-embedded tissue -- 32.1. Ewing sarcoma -- 32.2. Liposarcoma -- 32.3. Neuroblastoma -- 32.4. Non-small cell lung cancer -- 32.5. Oligodendroglioma -- 32.6. Rhabdomyosarcoma -- 32.7. Synovial sarcoma -- 33. Breast cancer -- HER2 FISH analysis -- 33.1.Common report comments -- 33.2. Example HER2 reports -- 33.3. Genetic heterogeneity -- 34. Bladder cancer FISH analysis -- 34.1.Common report comments -- 34.2. Example reports -- Section 3 Chromosomal Microarray Analysis (CMA) -- 35. Chromosomal microarray analysis for hematological disorders -- 35.1. Introduction -- 35.2. Categories of abnormalities -- 35.3.Complex abnormalities throughout the genome, chromothripsis and homozygosity -- 35.4. Normal results and disclaimers -- 35.5. Example abnormal results in hematological malignancies -- 36. Chromosomal microarrays for tumors -- 36.1. Introduction and disclaimers -- 36.2. Breast cancer -- 36.3. Lung cancer -- 36.4. Colon cancer -- 36.5. Prostate cancer -- 36.6. Unspecified tumor present -- 37. Integrated reports with chromosomes, FISH and microarrays -- 37.1. Homozygous deletion of 9p21 identified by FISH and CMA -- 37.2. Identifying marker chromosomes by chromosome analysis, FISH and CMA -- 37.3. Unbalanced translocation identification by chromosomes, FISH and CMA.
Additional Edition:
Print version: Zneimer, Susan Mahler. Cytogenetic abnormalities. Chichester, West Sussex : Wiley Blackwell, 2014 ISBN 9781118912492
Language:
English
Keywords:
Electronic books.
;
Electronic books.
;
Electronic books.
;
Electronic books.
URL:
https://onlinelibrary.wiley.com/doi/book/10.1002/9781118412602
URL:
https://onlinelibrary.wiley.com/doi/book/10.1002/9781118412602
URL:
https://onlinelibrary.wiley.com/doi/book/10.1002/9781118412602
Bookmarklink
