ISCN
Published in
collaboration with
Published in collaboration with Cytogenetic and Genome Research under the title ISCN 2013:
An International System for Human Cytogenetic Nomenclature (2013)
VI + 140 p. plus fold-out, 11 g., 4 tab., 2013
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Table of Contents
1
1.1
1.2
1.3
1.4
1.5
2
2.1
2.2
2.2.1
2.2.2
2.2.3
2.3
2.3.1
2.3.2
2.4
2.5
6
6
6
6
7
8
9
9
10
12
15
36
4
4.1
4.2
4.3
39
39
41
4.3.1
4.3.1.1
4.3.1.2
4.3.1.3
4.3.2
4.3.2.1
4.3.2.2
4.4
4.5
19561984............................................................................................
19851995............................................................................................
19962004............................................................................................
20052009............................................................................................
20102013............................................................................................
1
1
3
4
5
5
42
42
42
43
44
44
44
45
45
46
5
5.1
5.2
5.3
5.4
49
49
50
50
51
52
7
7.1
7.1.1
7.1.2
7.2
53
53
53
53
54
8
8.1
8.2
8.3
8.4
9
9.1
9.2
9.2.1
9.2.2
9.2.3
9.2.4
9.2.5
9.2.6
9.2.7
9.2.8
9.2.9
9.2.10
9.2.11
9.2.12
9.2.13
9.2.14
9.2.15
9.2.16
9.2.17
9.2.17.1
9.2.17.2
9.2.17.3
9.2.17.4
9.2.18
9.2.19
9.3
IV
55
55
56
57
58
59
59
60
60
61
62
67
69
69
69
70
71
72
72
73
75
75
75
77
78
78
80
81
82
83
83
83
ISCN 2013
10
10.1
10.1.1
10.1.2
10.2
10.2.1
10.2.2
10.3
Chromosome Breakage....................................................................
11
11.1
11.1.1
11.1.2
11.1.3
11.1.4
11.1.5
11.1.6
11.2
11.3
Neoplasia ..........................................................................................
12
12.1
12.1.1
12.1.2
13
13.1
13.2
13.2.1
13.2.2
13.3
13.3.1
13.3.2
13.3.2.1
13.3.2.2
13.3.2.3
13.3.2.4
13.4
13.5
13.5.1
13.6
13.7
13.8
Terminology .........................................................................................
Examples of Meiotic Nomenclature ...........................................................
Correlation between Meiotic Chromosomes and Mitotic Banding Patterns .......
Introduction..........................................................................................
Prophase/Metaphase in situ Hybridization (ish) ...........................................
Use of dim and enh ................................................................................
Subtelomeric Metaphase in situ Hybridization ............................................
Interphase/Nuclear in situ Hybridization (nuc ish) ........................................
Number of Signals..................................................................................
Relative Position of Signals ......................................................................
Single Fusion Probes ..............................................................................
Single Fusion with Extra Signal Probes .......................................................
Dual Fusion Probes ................................................................................
Break-Apart Probes ................................................................................
In situ Hybridization on Extended Chromatin/DNA Fibers (b ish) ...................
Reverse in situ Hybridization (rev ish) ........................................................
Chromosome Analyses Using Probes Derived from Sorted or Microdissected
Chromosomes .......................................................................................
Chromosome Comparative Genomic Hybridization (cgh) ..............................
Multi-Color Chromosome Painting ............................................................
Partial Chromosome Paints ......................................................................
Table of Contents
85
85
85
86
86
86
87
87
88
88
88
89
89
90
92
94
94
95
97
97
98
100
105
105
105
111
111
111
112
115
117
117
117
118
119
119
119
120
120
120
14
14.1
14.2
14.2.1
14.2.2
Microarrays .......................................................................................
15
15.1
15.2
15.3
Region-Specic Assays.....................................................................
Introduction..........................................................................................
Examples of RSA Nomenclature for Copy Number Detection .........................
Examples of RSA Nomenclature for Balanced Translocations or Fusion Genes . . .
129
129
129
130
16
References ........................................................................................
131
17
133
18
Appendix ..........................................................................................
135
19
Index .................................................................................................
137
Introduction..........................................................................................
Examples of Microarray Nomenclature .......................................................
Nomenclature Specic to SNP Arrays .........................................................
Complex Array Results ............................................................................
VI
121
121
122
127
128
ISCN 2013