International System for Human Cytogenomic Nomenclature

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International System for Human Cytogenetic Nomenclature
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The International System for Human Cytogenomic Nomenclature (previously International System for Human Cytogenetic Nomenclature), ISCN in short, is an international standard for

chromosome abnormalities
.

The ISCN has been used as the central reference among cytogeneticists since 1960.[1][2]

Three chromosomal abnormalities with ISCN nomenclature, with increasing complexity: (A) A tumour karyotype in a male with loss of the Y chromosome, (B) Prader–Willi Syndrome i.e. deletion in the 15q11-q12 region and (C) an arbitrary karyotype that involves a variety of autosomal and allosomal abnormalities.[3]
autosomal chromosome pairs, both the female (XX) and male (XY) versions of the two sex chromosomes, as well as the mitochondrial genome (at bottom left).

Abbreviations of this system include a minus sign (-) for chromosome deletions, and del for deletions of parts of a chromosome.[4]

Revision history

See also

References

  1. .
  2. PMID 31228194.{{cite journal}}: CS1 maint: multiple names: authors list (link)
    - "This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/
    )"
  3. ^ "ISCN Symbols and Abbreviated Terms". Coriell Institute for Medical Research. Retrieved 2022-10-27.

External links