Cytogenetic Abnormalities E-Book

Susan Mahler Zneimer

• Herausgeber: John Wiley & Sons
• Kategorie: Wissenschaft und neue Technologien
• Sprache: Englisch

Seitenzahl: 1047

Veröffentlichungsjahr: 2014

Beschreibung

Cytogenetics is the study of the structure and function of chromosomes in relation to phenotypic expression.Chromosomal abnormalities underlie the development of a wide variety of diseases and disorders ranging from Down syndrome to cancer, and are of widespread interest in both basic and clinical research. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting is a practical guide that describes cytogenetic abnormalities, their clinical implications and how best to report and communicate laboratory findings in research and clinical settings. The text first examines chromosomal, FISH, and microarray-based analyses in constitutional disorders. Using these same methodologies, the book's focus shifts to acquired abnormalities in cancers. Both sections provide illustrative examples of cytogenetic abnormalities and how to communicate these findings in standardized laboratory reports. Providing both a wealth of cytogenetic information, as well as practical guidance on how best to communicate findings to fellow research and medical professionals, Cytogenetic Abnormalities will be an essential resource for cytogeneticists, laboratory personnel, clinicians, research scientists, and students in the field. * A guide to interpreting and reporting cytogenetic laboratory results involved in constitutional disorders and cancers * Guides the reader on implementing the International System for Human Cytogenetic Nomenclature in written reports * Provides information to allow scientists and medical professionals to fully understand and communicate cytogenetic abnormalities * Describes a wide array of cytogenetic abnormalities observed in the laboratory * Divided into user-friendly sections devoted to methodologies and implications of specific diseases

Leseprobe

CONTENTS

Cover

Title page

Copyright page

Dedication

Preface

Acknowledgments

Introduction

Overview of cytogenetic testing in the laboratory

Bibliography

Part 1: Constitutional Analyses

Section 1: Chromosome Analysis

Chapter 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

References

Bibliography

Chapter 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

Bibliography

Chapter 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

Bibliography

Chapter 4: Translocations

4.1 Reciprocal (balanced) translocations

4.2 Robertsonian translocations

References

Bibliography

Chapter 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

Bibliography

Chapter 6: Visible deletions, duplications and insertions

6.1 Definitions

6.2 Visible duplications

6.3 Balanced Insertions

Bibliography

Chapter 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

Bibliography

Chapter 8: Isochromosomes, dicentric chromosomes and pseudodicentric chromosomes

8.1 Isochromosomes/dicentric chromosomes

8.2 Pseudodicentric chromosomes

Bibliography

Chapter 9: Composite karyotypes and other complex rearrangements

9.1 Composite karyotypes

9.2 Complex rearrangements

Bibliography

Chapter 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

Bibliography

Chapter 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

Reference

Bibliography

Chapter 12: Uniparental disomy

12.1 Uniparental disomy of chromosome 14

12.2 Uniparental disomy of chromosome 15

12.3 Uniparental disomy of chromosome 11p15

Reference

Bibliography

Section 2: Fluorescence

In Situ

Hybridization (FISH) Analysis

Chapter 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

Bibliography

Commercial FISH probes are available at these websites

Chapter 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

Bibliography

Commercial FISH probes are available at these websites

Chapter 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

Bibliography

Commercial FISH probes are available at these websites

Section 3: Chromosomal Microarray Analysis (CMA)

Chapter 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

Bibliography

Microarray database resources

Chapter 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

Bibliography

Microarray database resources

Chapter 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

Bibliography

Microarray database resources

Chapter 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

Bibliography

Part 2: Acquired Abnormalities in Hematological and Tumor Malignancies

Section 1: Chromosome Analysis

Chapter 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

Bibliography

Chapter 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

Bibliography

Chapter 22: Cytogenetic abnormalitiesin myeloid disorders

22.1 Introduction to myeloid disorders

22.2 Individual myeloid abnormalities by chromosome order

Bibliography

Chapter 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

Bibliography

Chapter 24: Common biphenotypic abnormalities and secondary changes

24.1 Translocation (4;11)(q21;q23)

24.2 Del(9q)

24.3 Translocation (11;19)(q23;p13.3)

24.4 Del(12)(p11.2p13)

24.5 Trisomy 15

24.6 i(17q)

Bibliography

Chapter 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

Bibliography

Chapter 26: Breakage disorders

26.1 Ataxia telangiectasia

26.2 Bloom syndrome

26.3 Fanconi anemia

26.4 Nijmegen syndrome

Bibliography

Chapter 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

Bibliography

Section 2: Fluorescence

In Situ

Hybridization (FISH) Analysis

Chapter 28: Introduction to FISH analysis for hematological disorders and solid tumors

28.1 General results

28.2 Bone marrow transplantation results

Bibliography

Commercial FISH probes are available at these websites

Chapter 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

Bibliography

Commercial FISH probes are available at these websites

Chapter 30: Recurrent FISH abnormalities in lymphoid disorders

30.1 Individual abnormalities in lymphoid disorders by chromosome order

30.2 Panels of probes

Bibliography