ISCN 2005: an international system for human cytogenetic nomenclature (2005) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Basel [u.a.]
Karger
2005
|
| Schlagworte: | |
| Online-Zugang: | Table of contents Inhaltsverzeichnis |
| Beschreibung: | 130 S. Ill., graph. Darst., Faltpl. |
| ISBN: | 3805580193 |
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| 245 | 1 | 0 | |a ISCN 2005 |b an international system for human cytogenetic nomenclature (2005) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature |c ed.: Lisa G. Shaffer ... |
| 264 | 1 | |a Basel [u.a.] |b Karger |c 2005 | |
| 300 | |a 130 S. |b Ill., graph. Darst., Faltpl. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 650 | 4 | |a Chromosomes humains - Anomalies - Nomenclature | |
| 650 | 4 | |a Chromosomes humains - Anomalies - Terminologie | |
| 650 | 4 | |a Chromosomes humains - Nomenclature | |
| 650 | 4 | |a Chromosomes humains - Terminologie | |
| 650 | 7 | |a Cytogenetik - Medizinische Nomenklatur |2 swd | |
| 650 | 4 | |a Cytogénétique - Nomenclature | |
| 650 | 4 | |a Cytogénétique - Terminologie | |
| 650 | 7 | |a Medizinische Nomenklatur - Cytogenetik |2 swd | |
| 650 | 4 | |a Human cytogenetics |v Nomenclature | |
| 650 | 4 | |a Human cytogenetics |v Terminology | |
| 650 | 4 | |a Human chromosomes |v Nomenclature | |
| 650 | 4 | |a Human chromosomes |v Terminology | |
| 650 | 4 | |a Human chromosome abnormalities |v Nomenclature | |
| 650 | 4 | |a Human chromosome abnormalities |v Terminology | |
| 650 | 4 | |a Cytogenetics |v Terminology |x English | |
| 650 | 4 | |a Genomics |v Terminology |x English | |
| 700 | 1 | |a Shaffer, Lisa G. |e Sonstige |4 oth | |
| 710 | 2 | |a Standing Committee on Human Cytogenetic Nomenclature |e Sonstige |0 (DE-588)2053732-3 |4 oth | |
| 856 | 4 | |u http://www.loc.gov/catdir/toc/ecip0518/2005026055.html |3 Table of contents | |
| 856 | 4 | 2 | |m HBZ Datenaustausch |q application/pdf |u http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=014188654&sequence=000006&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |3 Inhaltsverzeichnis |
| 999 | |a oai:aleph.bib-bvb.de:BVB01-014188654 | ||
Datensatz im Suchindex
| _version_ | 1804134590489559040 |
|---|---|
| adam_text | Table of Contents
1 Historical Introduction i
1.1 1956 1984 1
1.2 1985 1995 4
1.3 1996 2004 4
2 Normal Chromosomes 6
2.1 Introduction 6
2.2 Chromosome Number and Morphology 6
2.2.1 Non Banding Techniques 6
2.2.2 Banding Techniques 7
2.2.3 X andY Chromatin 8
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 10
2.4 High Resolution Banding 13
2.5 Molecular Basis of Banding 15
3 Symbols and Abbreviated Terms 36
4 Karyotype Designation 39
4.1 General Principles 39
4.2 Specification of Breakpoints 41
4.3 Designating Structural Chromosome Aberrations by Breakpoints and
Band Composition 42
4.3.1 Short System for Designating Structural Chromosome Aberrations 42
4.3.1.1 Two Break Rearrangements 42
4.3.1.2 Three Break Rearrangements 43
4.3.1.3 Four Break and More Complex Rearrangements 44
4.3.2 Detailed System for Designating Structural Chromosome Aberrations 44
4.3.2.1 Additional Symbols 44
4.3.2.2 Designating the Band Composition of a Chromosome 45
4.4 Derivative Chromosomes 45
4.5 Recombinant Chromosomes 46
5 Uncertainty in Chromosome or Band Designation 49
5.1 Questionable Identification 49
5.2 Uncertain Breakpoint Localization or Chromosome Number 50
5.3 Alternative I nterpretation 50
5.4 Incomplete Karyotype 51
6 Order of Chromosome Abnormalities in the Karyotype 52
7 Normal Variable Chromosome Features 53
7.1 Variation in Heterochromatic Segments, Satellite Stalks, and Satellites 53
7.1.1 Variation in Length 53
7.1.2 Variation in Number and Position 53
7.2 Fragile Sites 54
8 Numerical Chromosome Abnormalities 55
8.1 General Principles 55
8.2 Sex Chromosome Abnormalities 56
8.3 Autosomal Abnormalities 57
8.4 Uniparental Disomy 58
9 Structural Chromosome Rearrangements 59
9.1 General Principles 59
9.2 Specification of Structural Rearrangements 60
9.2.1 Additional Material of Unknown Origin 60
9.2.2 Deletions 61
9.2.3 Derivative Chromosomes 62
9.2.4 Dicentric Chromosomes 66
9.2.5 Neo centromeres 68
9.2.6 Duplications 69
9.2.7 Fission 69
9.2.8 Fragile Sites 70
9.2.9 Homogeneously Staining Regions 70
9.2.10 Insertions 71
9.2.11 Inversions 72
9.2.12 Isochromosomes 72
9.2.13 Marker Chromosomes 73
9.2.14 Quadruplications 74
9.2.15 Ring Chromosomes 75
9.2.16 Telomeric Associations 77
9.2.17 Translocations 77
9.2.17.1 Reciprocal Translocations 77
9.2.17.2 Whole Arm Translocations 80
9.2.17.3 Robertsonian Translocations 81
9.2.17.4 Jumping Translocations 82
9.2.18 Tricentric Chromosomes 82
9.2.19 Triplications 82
9.3 Multiple Copies of Rearranged Chromosomes 83
10 Chromosome Breakage 85
10.1 Chromatid Aberrations 85
10.1.1 Non Banded Preparations 85
10.1.2 Banded Preparations 86
10.2 Chromosome Aberrations 86
10.2.1 Non Banded Preparations 86
10.2.2 Banded Preparations 87
10.3 Scoring of Aberrations 87
n Neoplasia 88
11.1 Clones and Clonal Evolution 88
11.1.1 Definition of a Clone 88
11.1.2 Clone Size 88
11.1.3 Mainline 89
11.1.4 Stemline, Sideline and Clonal Evolution 89
11.1.5 Composite Karyotype 91
11.1.6 Unrelated Clones 93
11.2 Modal Number 93
11.3 Constitutional Karyotype 94
12 Meiotic Chromosomes 96
12.1 Terminology 96
12.1.1 Examples of Meiotic Nomenclature 97
12.1.2 Correlation between Meiotic Chromosomes and Mitotic Banding Patterns 99
13 In situ Hybridization 104
13.1 Introduction 104
13.2 List of Symbols and Abbreviations 104
13.3 Prophase/Metaphase in situ Hybridization (ish) 105
13.3.1 Subtelomeric Metaphase in situ Hybridization 110
13.4 Interphase/Nuclearinsitu Hybridization (nucish) 110
13.4.1 Number of Signals 110
13.4.2 Relative Position of Signals 112
13.4.2.1 Single Fusion Probes 114
13.4.2.2 Single Fusion with Extra Signal Probes 114
13.4.2.3 Dual Fusion Probes 114
13.4.2.4 Break apart Probes 115
13.5 In situ Hybridization on Extended Chromatin/DNA Fibers (fib ish) 115
13.6 Reverse in situ Hybridization (rev ish) 116
13.6.1 Copy Number Determination Using Probes Derived from Total GenomicDNA 116
13.6.2 Chromosome Analyses Using Probes Derived from Sorted or Microdissected
Chromosomes 117
13.6.3 Use of dim and enh for Partial Deletions or Partial Duplications of a Locus 118
13.7 Multi Color Chromosome Painting 118
13.8 Partial Chromosome Paints 118
13.9 Chromosome Comparative Genomic Hybridization (cgh) 118
13.10 Array Comparative Genomic Hybridization (arr cgh) 118
14 References 121
15 Members of the ISCN Standing Committee and Consultants;
Acknowledgements 123
16 Appendix 125
17 Index 127
|
| adam_txt |
Table of Contents
1 Historical Introduction i
1.1 1956 1984 1
1.2 1985 1995 4
1.3 1996 2004 4
2 Normal Chromosomes 6
2.1 Introduction 6
2.2 Chromosome Number and Morphology 6
2.2.1 Non Banding Techniques 6
2.2.2 Banding Techniques 7
2.2.3 X andY Chromatin 8
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 10
2.4 High Resolution Banding 13
2.5 Molecular Basis of Banding 15
3 Symbols and Abbreviated Terms 36
4 Karyotype Designation 39
4.1 General Principles 39
4.2 Specification of Breakpoints 41
4.3 Designating Structural Chromosome Aberrations by Breakpoints and
Band Composition 42
4.3.1 Short System for Designating Structural Chromosome Aberrations 42
4.3.1.1 Two Break Rearrangements 42
4.3.1.2 Three Break Rearrangements 43
4.3.1.3 Four Break and More Complex Rearrangements 44
4.3.2 Detailed System for Designating Structural Chromosome Aberrations 44
4.3.2.1 Additional Symbols 44
4.3.2.2 Designating the Band Composition of a Chromosome 45
4.4 Derivative Chromosomes 45
4.5 Recombinant Chromosomes 46
5 Uncertainty in Chromosome or Band Designation 49
5.1 Questionable Identification 49
5.2 Uncertain Breakpoint Localization or Chromosome Number 50
5.3 Alternative I nterpretation 50
5.4 Incomplete Karyotype 51
6 Order of Chromosome Abnormalities in the Karyotype 52
7 Normal Variable Chromosome Features 53
7.1 Variation in Heterochromatic Segments, Satellite Stalks, and Satellites 53
7.1.1 Variation in Length 53
7.1.2 Variation in Number and Position 53
7.2 Fragile Sites 54
8 Numerical Chromosome Abnormalities 55
8.1 General Principles 55
8.2 Sex Chromosome Abnormalities 56
8.3 Autosomal Abnormalities 57
8.4 Uniparental Disomy 58
9 Structural Chromosome Rearrangements 59
9.1 General Principles 59
9.2 Specification of Structural Rearrangements 60
9.2.1 Additional Material of Unknown Origin 60
9.2.2 Deletions 61
9.2.3 Derivative Chromosomes 62
9.2.4 Dicentric Chromosomes 66
9.2.5 Neo centromeres 68
9.2.6 Duplications 69
9.2.7 Fission 69
9.2.8 Fragile Sites 70
9.2.9 Homogeneously Staining Regions 70
9.2.10 Insertions 71
9.2.11 Inversions 72
9.2.12 Isochromosomes 72
9.2.13 Marker Chromosomes 73
9.2.14 Quadruplications 74
9.2.15 Ring Chromosomes 75
9.2.16 Telomeric Associations 77
9.2.17 Translocations 77
9.2.17.1 Reciprocal Translocations 77
9.2.17.2 Whole Arm Translocations 80
9.2.17.3 Robertsonian Translocations 81
9.2.17.4 Jumping Translocations 82
9.2.18 Tricentric Chromosomes 82
9.2.19 Triplications 82
9.3 Multiple Copies of Rearranged Chromosomes 83
10 Chromosome Breakage 85
10.1 Chromatid Aberrations 85
10.1.1 Non Banded Preparations 85
10.1.2 Banded Preparations 86
10.2 Chromosome Aberrations 86
10.2.1 Non Banded Preparations 86
10.2.2 Banded Preparations 87
10.3 Scoring of Aberrations 87
n Neoplasia 88
11.1 Clones and Clonal Evolution 88
11.1.1 Definition of a Clone 88
11.1.2 Clone Size 88
11.1.3 Mainline 89
11.1.4 Stemline, Sideline and Clonal Evolution 89
11.1.5 Composite Karyotype 91
11.1.6 Unrelated Clones 93
11.2 Modal Number 93
11.3 Constitutional Karyotype 94
12 Meiotic Chromosomes 96
12.1 Terminology 96
12.1.1 Examples of Meiotic Nomenclature 97
12.1.2 Correlation between Meiotic Chromosomes and Mitotic Banding Patterns 99
13 In situ Hybridization 104
13.1 Introduction 104
13.2 List of Symbols and Abbreviations 104
13.3 Prophase/Metaphase in situ Hybridization (ish) 105
13.3.1 Subtelomeric Metaphase in situ Hybridization 110
13.4 Interphase/Nuclearinsitu Hybridization (nucish) 110
13.4.1 Number of Signals 110
13.4.2 Relative Position of Signals 112
13.4.2.1 Single Fusion Probes 114
13.4.2.2 Single Fusion with Extra Signal Probes 114
13.4.2.3 Dual Fusion Probes 114
13.4.2.4 Break apart Probes 115
13.5 In situ Hybridization on Extended Chromatin/DNA Fibers (fib ish) 115
13.6 Reverse in situ Hybridization (rev ish) 116
13.6.1 Copy Number Determination Using Probes Derived from Total GenomicDNA 116
13.6.2 Chromosome Analyses Using Probes Derived from Sorted or Microdissected
Chromosomes 117
13.6.3 Use of dim and enh for Partial Deletions or Partial Duplications of a Locus 118
13.7 Multi Color Chromosome Painting 118
13.8 Partial Chromosome Paints 118
13.9 Chromosome Comparative Genomic Hybridization (cgh) 118
13.10 Array Comparative Genomic Hybridization (arr cgh) 118
14 References 121
15 Members of the ISCN Standing Committee and Consultants;
Acknowledgements 123
16 Appendix 125
17 Index 127 |
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| illustrated | Illustrated |
| index_date | 2024-07-02T13:24:39Z |
| indexdate | 2024-07-09T20:27:02Z |
| institution | BVB |
| institution_GND | (DE-588)2053732-3 |
| isbn | 3805580193 |
| language | English |
| lccn | 2005026055 |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-014188654 |
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| physical | 130 S. Ill., graph. Darst., Faltpl. |
| publishDate | 2005 |
| publishDateSearch | 2005 |
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| publisher | Karger |
| record_format | marc |
| spelling | ISCN 2005 an international system for human cytogenetic nomenclature (2005) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature ed.: Lisa G. Shaffer ... Basel [u.a.] Karger 2005 130 S. Ill., graph. Darst., Faltpl. txt rdacontent n rdamedia nc rdacarrier Chromosomes humains - Anomalies - Nomenclature Chromosomes humains - Anomalies - Terminologie Chromosomes humains - Nomenclature Chromosomes humains - Terminologie Cytogenetik - Medizinische Nomenklatur swd Cytogénétique - Nomenclature Cytogénétique - Terminologie Medizinische Nomenklatur - Cytogenetik swd Human cytogenetics Nomenclature Human cytogenetics Terminology Human chromosomes Nomenclature Human chromosomes Terminology Human chromosome abnormalities Nomenclature Human chromosome abnormalities Terminology Cytogenetics Terminology English Genomics Terminology English Shaffer, Lisa G. Sonstige oth Standing Committee on Human Cytogenetic Nomenclature Sonstige (DE-588)2053732-3 oth http://www.loc.gov/catdir/toc/ecip0518/2005026055.html Table of contents HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=014188654&sequence=000006&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | ISCN 2005 an international system for human cytogenetic nomenclature (2005) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature Chromosomes humains - Anomalies - Nomenclature Chromosomes humains - Anomalies - Terminologie Chromosomes humains - Nomenclature Chromosomes humains - Terminologie Cytogenetik - Medizinische Nomenklatur swd Cytogénétique - Nomenclature Cytogénétique - Terminologie Medizinische Nomenklatur - Cytogenetik swd Human cytogenetics Nomenclature Human cytogenetics Terminology Human chromosomes Nomenclature Human chromosomes Terminology Human chromosome abnormalities Nomenclature Human chromosome abnormalities Terminology Cytogenetics Terminology English Genomics Terminology English |
| title | ISCN 2005 an international system for human cytogenetic nomenclature (2005) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature |
| title_auth | ISCN 2005 an international system for human cytogenetic nomenclature (2005) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature |
| title_exact_search | ISCN 2005 an international system for human cytogenetic nomenclature (2005) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature |
| title_exact_search_txtP | ISCN 2005 an international system for human cytogenetic nomenclature (2005) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature |
| title_full | ISCN 2005 an international system for human cytogenetic nomenclature (2005) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature ed.: Lisa G. Shaffer ... |
| title_fullStr | ISCN 2005 an international system for human cytogenetic nomenclature (2005) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature ed.: Lisa G. Shaffer ... |
| title_full_unstemmed | ISCN 2005 an international system for human cytogenetic nomenclature (2005) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature ed.: Lisa G. Shaffer ... |
| title_short | ISCN 2005 |
| title_sort | iscn 2005 an international system for human cytogenetic nomenclature 2005 recommendations of the international standing committee on human cytogenetic nomenclature |
| title_sub | an international system for human cytogenetic nomenclature (2005) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature |
| topic | Chromosomes humains - Anomalies - Nomenclature Chromosomes humains - Anomalies - Terminologie Chromosomes humains - Nomenclature Chromosomes humains - Terminologie Cytogenetik - Medizinische Nomenklatur swd Cytogénétique - Nomenclature Cytogénétique - Terminologie Medizinische Nomenklatur - Cytogenetik swd Human cytogenetics Nomenclature Human cytogenetics Terminology Human chromosomes Nomenclature Human chromosomes Terminology Human chromosome abnormalities Nomenclature Human chromosome abnormalities Terminology Cytogenetics Terminology English Genomics Terminology English |
| topic_facet | Chromosomes humains - Anomalies - Nomenclature Chromosomes humains - Anomalies - Terminologie Chromosomes humains - Nomenclature Chromosomes humains - Terminologie Cytogenetik - Medizinische Nomenklatur Cytogénétique - Nomenclature Cytogénétique - Terminologie Medizinische Nomenklatur - Cytogenetik Human cytogenetics Nomenclature Human cytogenetics Terminology Human chromosomes Nomenclature Human chromosomes Terminology Human chromosome abnormalities Nomenclature Human chromosome abnormalities Terminology Cytogenetics Terminology English Genomics Terminology English |
| url | http://www.loc.gov/catdir/toc/ecip0518/2005026055.html http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=014188654&sequence=000006&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT shafferlisag iscn2005aninternationalsystemforhumancytogeneticnomenclature2005recommendationsoftheinternationalstandingcommitteeonhumancytogeneticnomenclature AT standingcommitteeonhumancytogeneticnomenclature iscn2005aninternationalsystemforhumancytogeneticnomenclature2005recommendationsoftheinternationalstandingcommitteeonhumancytogeneticnomenclature |