ISCN Rules for Listing Chromosomal Rearrangements


Publication Name:  Current Protocols in Human Genetics
Unit Number:  Appendix 4C
DOI:  10.1002/0471142905.hga04cs17
Online Posting Date:  May, 2001
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Abstract

It contains the standard system for numbering human chromosomes and constitutional rearrangements and the banding pattern for normal chromosomes at 400‐, 550‐, and 850‐band levels of resolution. ISCN 1995 also contains guidelines for cancer cytogenetics and for in situ hybridization. The complete ISCN 1995 also contains nomenclature for human meiotic chromosomes (not included here). The guidelines presented herein are recommended for use when reporting karyotypes, designating chromosome rearrangements and aberrations, and indicating regions of the genome where DNA sequences are located.It contains the standard system for numbering human chromosomes and constitutional rearrangements and the banding pattern for.

     
 
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Table of Contents

  • 1 Historical Introduction (Not Included)
  • 4 Karyotype Designation
  • 5 Uncertainty in Chromosome or Band Designation
  • 6 Order of Chromosome Abnormalities in the Karyotype
  • 7 Normal Variable Chromosome Features (Not Included)
  • 8 Numerical Chromosome Abnormalities
  • 9 Structural Chromosome Rearrangements
  • 10 Chromosome Breakage (Not Included)
  • 11 Neoplasia
  • 12 Meiotic Chromosomes (Not Included)
  • 13 In Situ Hybridization
  • Literature Cited
  • Figures
  • Tables
     
 
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Materials

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Literature Cited

Literature Cited
   Cremer, T., Landegent, J., Bruckner, A., Scholl, H.P., Schardin, M., Hager, H.D., Devilee, P., Pearson, P., and van der Ploeg, M. 1986. Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non‐radioactive in situ hybridization techniques: Diagnosis of trisomy 18 with probe L1.84. Hum. Genet. 74:346‐352.
  This article was adapted from ISCN (1995), An International System for Human Cytogenetic Nomenclature (F.Mitelman, ed.), by permission of S. Karger, Basel, Switzerland.
   Guan, X.Y., Meltzer, P.S., and Trent, J.M. 1994. Rapid generation of whole chromosome painting probes (WCPs) by chromosome microdissection. Genomics 22:101‐107.
   ISCN. 1985. An International System for Human Cytogenetic Nomenclature (D.G. Harnden and H.P. Klinger, eds.). S. Karger, Basel, Switzerland, and Farmington, Conn.
   ISCN. 1995. An International System for Human Cytogenetic Nomenclature (F. Mitelman, ed.). S. Karger, Basel, Switzerland.
   Kallioniemi, A., Kallioniemi, O.P., Sudar, D., Rutovitz, D., Gray, J.W., Waldman, F., and Pinkel, D. 1992. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258:818‐821.
   Landegent, J.E., Janses in de Wal, N., Dirks, R.W., Baao, F., and van der Ploeg, M. 1987. Use of whole cosmid cloned genomic sequences for chromosomal localization by non‐radioactive in situ hybridization. Hum. Genet. 77:366‐370.
   Lichter, P., Cremer, T., Borden, J., Manuelidis, L., and Ward, D.C. 1988. Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries. Hum. Genet. 80:224‐234.
   Lichter, P., Tang, C.J., Call, K., Hermanson, G., Evans, G.A., Housman, D., and Ward, D.C. 1990. High‐resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science 247:64‐69.
   Parra, I. and Windle, B. 1993. High resolution visual mapping of stretched DNA by fluorescent hybridization. Nature Genet. 5:17‐21.
   Pinkel, D., Landegent, J., Collins, C., Fuscoe, J., Segraves, R., Lucas, J., and Gray, J.W. 1988. Fluorescence in situ hybridization with human chromosome‐specific libraries: Detection of trisomy 21 and translocations of chromosome 4. Proc. Natl. Acad. Sci. U.S.A. 85:9138‐9142.
   Trask, B. 1990. Fluorescence in situ hybridization: Applications in cytogenetics and gene mapping. Trends Genet. 7:149‐154.
   Wiegant, J., Kalle, W., Mullenders, L., Brookes, S., Hoovers, J.M., Dauwerese, J.G., van Ommen, G.J., and Raap, A.K. 1992. High‐resolution in situ hybridization using DNA halo preparations. Hum. Mol. Genet. 1:587‐591.
   Wiegant, J., Wiesmeijer, C.C., Hoovers, J.M.N., Schuuring, E., d'Azzo, A., Vrolijk, J., Tanke, H.J., and Raap, A.K. 1993. Multiple and sensitive fluorescence in situ hybridization with rhodamine‐, fluorescein‐, and coumarin‐labeled DNAs. Cytogenet. Cell Genet. 63:73‐76.
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