ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013)Karger Medical and Scientific Publishers, 2013 - 140 pages This publication extends the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with Cytogenetic and Genome Research' since 1963. Revised and finalized by the ISCN Committee and its advisors at a meeting in Seattle, Wash., in April 2012, the ISCN 2013 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations. There are several new features in ISCN 2013: an update of the microarray nomenclature, many more illustrative examples of uses of nomenclature in all sections some definitions including chromothripsis and duplication a new chapter for nomenclature that can be used for any region-specific assay. The ISCN 2013 is an indispensable reference volume for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature. |
Table des matières
1 Historical Introduction | 1 |
2 Normal Chromosomes | 6 |
3 Symbols and Abbreviated Terms | 36 |
4 Karyotype Designation | 39 |
5 Uncertainty in Chromosome or Band Designation | 49 |
6 Order of Chromosome Abnormalities in the Karyotype | 52 |
7 Normal Variable Chromosome Features | 53 |
8 Numerical Chromosome Abnormalities | 55 |
12 Meiotic Chromosomes | 97 |
13 In situ Hybridization | 105 |
14 Microarrays | 121 |
15 RegionSpecific Assays | 129 |
| 131 | |
17 Members of the ISCN Standing Committee and Consultants | 133 |
18 Appendix | 135 |
| 137 | |
9 Structural Chromosome Rearrangements | 59 |
10 Chromosome Breakage | 85 |
11 Neoplasia | 88 |
Cover | 141 |
Expressions et termes fréquents
ABL1 abnormal chromosome acentric arm of chromosome autosomes band of medium bivalents Breakage and reunion breakpoints centromere chiasmata chro chromatid chromo chromosome 21 chromosome number chromosome paint chromosome segment clonal complex rearrangements composite karyotype copy number cytogenetic deletion derivative chromosome describe detailed system dicentric chromosome G-bands Genetics genome heterochromatin homologous chromosomes Human Cytogenetic hybridization identified by ish idiograms indicated insertion interphase inversion ISCN isochromosome karyotype karyotype contains listed loci locus long arm loss male marker chromosome meiotic metaphase Microarray analysis shows monosomy mosome negative band nomenclature normal chromosome 21 number of cells ofthe parentheses probe pter to qter rearranged chromosome recombinant chromosome region region-specific assay reunion have occurred ring chromosomes Robertsonian translocation satellites Section segment between bands short arm short system single copy gain SNP array specified staining stemline sub-band subclone symbol translocated onto chromosome trisomy 21 Tumor cells unknown origin whole chromosome paint X chromosome