ISCN 2016: An International System for Human Cytogenomic Nomenclature (2016) ; recommendations of the International Standing Human Committee on Human Cytogenomic Nomenclature including new sequence-based cytogenomic
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| Format: | Book |
| Language: | English |
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Basel
Karger
[2016]
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| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Physical Description: | VI, 139 Seiten Illustrationen |
| ISBN: | 9783318058574 3318058572 |
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Record in the Search Index
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| adam_text | Titel: ISCN 2016
Autor: McGowan-Jordan, Jean
Jahr: 2016
Contents
1 Historical Introduction..................................................................... i
1.1 1956-1984............................................................................................ 1
1.2 1985-1995............................................................................................ 3
1.3 1996-2004............................................................................................ 4
1.4 2005-2009............................................................................................ 5
1.5 2010-2013............................................................................................ 5
1.6 2014-2016............................................................................................ 6
2 Normal Chromosomes..................................................................... 7
2.1 Introduction.......................................................................................... 7
2.2 Chromosome Number and Morphology..................................................... 7
2.2.1 Non-Banding Techniques........................................................................ 7
2.2.2 Banding Techniques............................................................................... 8
2.2.3 X-and Y-Chromatin................................................................................ 9
2.3 Chromosome Band Nomenclature............................................................ 9
2.3.1 Identification and Definition of Chromosome Landmarks, Regions, and Bands.. 9
2.3.2 Designation of Regions, Bands, and Sub-Bands........................................... 11
2.4 High-Resolution Banding........................................................................ 12
2.5 Molecular Basis of Banding...................................................................... 14
3 Symbols and Abbreviated Terms.................................................... 34
4 Karyotype Designation.................................................................... 37
4.1 General Principles.................................................................................. 37
4.2 Specification of Breakpoints..................................................................... 40
4.3 Designating Structural Chromosome Aberrations by Breakpoints and
Band Composition................................................................................. 40
4.3.1 Short System for Designating Structural Chromosome Aberrations................. 41
4.3.1.1 Two-Break Rearrangements..................................................................... 41
4.3.1.2 Three-Break Rearrangements................................................................... 41
4.3.1.3 Four-Break and More Complex Rearrangements.......................................... 42
4.3.2 Detailed System for Designating Structural Chromosome Aberrations............. 42
4.3.2.1 Additional Symbols................................................................................ 43
4.3.2.2 Designating the Band Composition of a Chromosome.................................. 43
4.4 Derivative Chromosomes........................................................................ 44
4.5 Recombinant Chromosomes.................................................................... 46
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5 Uncertainty in Chromosome or Band Designation........................ 47
5.1 Questionable Identification..................................................................... 47
5.2 Uncertain Breakpoint Localization or Chromosome Number.......................... 48
5.3 Alternative Interpretation........................................................................ 48
5.4 Incomplete Karyotype............................................................................ 48
6 Order of Chromosome Abnormalities in the Karyotype................ 50
7 Normal Variable Chromosome Features......................................... 52
7.1 Variation in Heterochromatic Segments, Satellite Stalks, and Satellites............ 52
7.1.1 Variation in Length................................................................................. 52
7.1.2 Variation in Number and Position............................................................. 53
7.2 Fragile Sites.......................................................................................... 53
8 Numerical Chromosome Abnormalities.......................................... 54
8.1 General Principles.................................................................................. 54
8.2 Sex Chromosome Abnormalities............................................................... 55
8.3 Autosomal Abnormalities........................................................................ 56
8.4 Uniparental Disomy................................................................................ 57
9 Structural Chromosome Rearrangements...................................... 58
9.1 General Principles.................................................................................. 58
9.2 Specification of Structural Rearrangements................................................ 59
9.2.1 Additional Material of Unknown Origin...................................................... 59
9.2.2 Deletions.............................................................................................. 60
9.2.3 Derivative Chromosomes........................................................................ 60
9.2.4 Dicentric Chromosomes.......................................................................... 65
9.2.5 Duplications......................................................................................... 67
9.2.6 Fission................................................................................................. 67
9.2.7 Fragile Sites.......................................................................................... 67
9.2.8 Homogeneously Staining Regions............................................................ 68
9.2.9 Insertions............................................................................................. 68
9.2.10 Inversions............................................................................................. 69
9.2.11 Isochromosomes................................................................................... 70
9.2.12 Marker Chromosomes............................................................................. 70
9.2.13 Neocentromeres.................................................................................... 72
9.2.14 Quadruplicates................................................................................... 72
9.2.15 Ring Chromosomes................................................................................ 72
9.2.16 Telomeric Associations........................................................................... 74
9.2.17 Translocations....................................................................................... 75
9.2.17.1 Reciprocal Translocations........................................................................ 75
9.2.17.2 Whole-Arm Translocations....................................................................... 77
9.2.17.3 Robertsonian Translocations.................................................................... 78
9.2.17.4 Jumping Translocations.......................................................................... 79
9.2.18 Tricentric Chromosomes......................................................................... 79
9.2.19 Triplications.......................................................................................... 79
9.3 Multiple Copies of Rearranged Chromosomes............................................. 79
IV ISCN2016
10 Chromosome Breakage.................................................................... 81
10.1 Chromatid Aberrations........................................................................... 81
10.1.1 Non-Banded Preparations....................................................................... 81
10.1.2 Banded Preparations.............................................................................. 82
10.2 Chromosome Aberrations....................................................................... 82
10.2.1 Non-Banded Preparations....................................................................... 82
10.2.2 Banded Preparations.............................................................................. 83
10.3 Scoring of Aberrations............................................................................ 83
11 Neoplasia.......................................................................................... 84
11.1 Clones and Clonal Evolution.................................................................... 84
11.1.1 Definition of a Clone............................................................................... 84
11.1.2 Clone Size............................................................................................. 85
11.1.3 Mainline............................................................................................... 85
11.1.4 Stemline, Sideline and Clonal Evolution..................................................... 86
11.1.5 Composite Karyotype............................................................................. 88
11.1.6 Unrelated Clones................................................................................... 89
11.2 Modal Number...................................................................................... 90
11.3 Constitutional Karyotype......................................................................... 90
12 Meiotic Chromosomes..................................................................... 92
12.1 Terminology......................................................................................... 92
12.1.1 Examples of Meiotic Nomenclature........................................................... 93
12.1.2 Correlation between Meiotic Chromosomes and Mitotic Banding Patterns....... 94
13 In situ Hybridization........................................................................ 100
13.1 Introduction.......................................................................................... 100
13.2 Prophase/Metaphase in situ Hybridization (ish)........................................... 101
13.2.1 Use of dim and enh................................................................................ 105
13.2.2 Subtelomeric Metaphase in situ Hybridization............................................ 106
13.3 Interphase/Nuclear in situ Hybridization (nucish)........................................ 106
13.3.1 Number of Signals.................................................................................. 106
13.3.2 Relative Position of Signals...................................................................... 109
13.3.2.1 Single Fusion Probes.............................................................................. 111
13.3.2.2 Single Fusion with Extra Signal Probes....................................................... 111
13.3.2.3 Dual Fusion Probes................................................................................ 111
13.3.2.4 Break-Apart Probes................................................................................ 111
13.4 In situ Hybridization on Extended Chromatin/DNA Fibers (fib ish)................... 112
13.5 Reverse in situ Hybridization (rev ish)........................................................ 113
13.5.1 Chromosome Analyses Using Probes Derived from Sorted or Microdissected
Chromosomes....................................................................................... 113
13.6 Chromosome Comparative Genomic Hybridization (cgh).............................. 113
13.7 Multi-Color Chromosome Painting............................................................ 114
13.8 Partial Chromosome Paints...................................................................... 114
14 Microarrays....................................................................................... 115
14.1 Introduction.......................................................................................... 115
14.2 Examples of Microarray Nomenclature....................................................... 116
14.2.1 Nomenclature Specific to SNP Arrays......................................................... 121
14.2.2 Complex Array Results............................................................................ 122
Contents
15 Region-Specific Assays.................................................................... 123
15.1 Introduction.......................................................................................... 123
15.2 Examples of RSA Nomenclature for Copy Number Detection......................... 123
15.3 Examples of RSA Nomenclature for Balanced Translocations or Fusion Genes... 124
16 Sequence-Based Assays................................................................... 125
16.1 Introduction.......................................................................................... 125
16.2 General Principles.................................................................................. 125
16.3 Examples of Sequence-Based Nomenclature for Description of Chromosome
Rearrangements.................................................................................... 127
16.3.1 Deletions.............................................................................................. 127
16.3.2 Derivative Chromosomes........................................................................ 127
16.3.3 Duplications......................................................................................... 128
16.3.4 Insertions............................................................................................. 128
16.3.5 Inversions............................................................................................. 128
16.3.6 Ring Chromosomes................................................................................ 128
16.3.7 Translocations....................................................................................... 129
17 References........................................................................................ 130
18 Members of the ISCN Standing Committee and Advisors.............. 132
19 Appendix.......................................................................................... 134
20 Index................................................................................................. 136
VI ISCN 2016
|
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| indexdate | 2024-07-10T07:33:29Z |
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| spelling | ISCN 2016 An International System for Human Cytogenomic Nomenclature (2016) ; recommendations of the International Standing Human Committee on Human Cytogenomic Nomenclature including new sequence-based cytogenomic editors: Jean McGowan-Jordan [und zwei weitere] Basel Karger [2016] VI, 139 Seiten Illustrationen txt rdacontent n rdamedia nc rdacarrier Medizinische Nomenklatur (DE-588)4125877-0 gnd rswk-swf Humangenetik (DE-588)4072653-8 gnd rswk-swf Cytogenetik (DE-588)4070176-1 gnd rswk-swf Genetics Humangenetik (DE-588)4072653-8 s DE-604 Cytogenetik (DE-588)4070176-1 s Medizinische Nomenklatur (DE-588)4125877-0 s McGowan-Jordan, Jean edt S. Karger GmbH (DE-588)1064784445 pbl HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=029137301&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | ISCN 2016 An International System for Human Cytogenomic Nomenclature (2016) ; recommendations of the International Standing Human Committee on Human Cytogenomic Nomenclature including new sequence-based cytogenomic Medizinische Nomenklatur (DE-588)4125877-0 gnd Humangenetik (DE-588)4072653-8 gnd Cytogenetik (DE-588)4070176-1 gnd |
| subject_GND | (DE-588)4125877-0 (DE-588)4072653-8 (DE-588)4070176-1 |
| title | ISCN 2016 An International System for Human Cytogenomic Nomenclature (2016) ; recommendations of the International Standing Human Committee on Human Cytogenomic Nomenclature including new sequence-based cytogenomic |
| title_auth | ISCN 2016 An International System for Human Cytogenomic Nomenclature (2016) ; recommendations of the International Standing Human Committee on Human Cytogenomic Nomenclature including new sequence-based cytogenomic |
| title_exact_search | ISCN 2016 An International System for Human Cytogenomic Nomenclature (2016) ; recommendations of the International Standing Human Committee on Human Cytogenomic Nomenclature including new sequence-based cytogenomic |
| title_full | ISCN 2016 An International System for Human Cytogenomic Nomenclature (2016) ; recommendations of the International Standing Human Committee on Human Cytogenomic Nomenclature including new sequence-based cytogenomic editors: Jean McGowan-Jordan [und zwei weitere] |
| title_fullStr | ISCN 2016 An International System for Human Cytogenomic Nomenclature (2016) ; recommendations of the International Standing Human Committee on Human Cytogenomic Nomenclature including new sequence-based cytogenomic editors: Jean McGowan-Jordan [und zwei weitere] |
| title_full_unstemmed | ISCN 2016 An International System for Human Cytogenomic Nomenclature (2016) ; recommendations of the International Standing Human Committee on Human Cytogenomic Nomenclature including new sequence-based cytogenomic editors: Jean McGowan-Jordan [und zwei weitere] |
| title_short | ISCN 2016 |
| title_sort | iscn 2016 an international system for human cytogenomic nomenclature 2016 recommendations of the international standing human committee on human cytogenomic nomenclature including new sequence based cytogenomic |
| title_sub | An International System for Human Cytogenomic Nomenclature (2016) ; recommendations of the International Standing Human Committee on Human Cytogenomic Nomenclature including new sequence-based cytogenomic |
| topic | Medizinische Nomenklatur (DE-588)4125877-0 gnd Humangenetik (DE-588)4072653-8 gnd Cytogenetik (DE-588)4070176-1 gnd |
| topic_facet | Medizinische Nomenklatur Humangenetik Cytogenetik |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=029137301&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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