Chromosomal study

• FISH from cytology
  10 January 2017

  Cytology specimens: an excellent source of material for critical FISH studies.
  Open References
  Common Fluorescence In Situ Hybridization Applications in Cytology (2016) http://www.archivesofpathology.org/doi/pdf/10.5858/arpa.2016-0202-RA

• copy number alterations
  10 January 2017

  See also
  segmental copy number alterations / segmental CNAs
  References
  Importance of rare gene copy number alterations for personalized tumor characterization and survival analysis.
  Seifert M, Friedrich B, Beyer A.
  Genome Biol. 2016 Oct 3;17(1):204.
  PMID: #27716417#

• Y-chromosome FISH
  9 December 2011

  Detection of Y-chromosome using fluorescence in situ hybridization

• automated FISH
  7 December 2011

  Automated fluorescent in situ hybridization

• ISCN nomenclature of chromosomal anomalies
  16 June 2008

  cytogenetics nomenclature
  Deletions
  del(8)
  del(4)(q12)
  del(6)(q23q24)
  del(5)(q13q33)
  del(3)(q?)
  del(7)(p?)
  Translocations
  t(1;19)(q25;p13)
  t(1;14)(q42;p12-13)
  t(8;9;11)(q12;p24;p12)
  Derivatives
  der(22)t(9;22)
  Inversions
  inv(9)
  Insertions
  ins(12;?)(q13;?)
  Duplications
  add(2)(p25)
  add(12)(p13)
  Isochromosomes
  i(8)(q10)
  ider
  ider(19)(q10)
  Trisomies
  +8
  +15
  Monosomies
  -8
  Books
  ISCN 2013 : An International System for Human Cytogenetic Nomenclature (...)

• CESH
  11 September 2007

  Comparative expressed sequence hybridization (CESH)

• EM-ISEL
  18 July 2007

  electron microscopy in situ end-labeling assay, EM-ISEL

• microarray karyotyping
  6 February 2007

  See also
  molecular karyotyping
  array CGH

• molecular karyotyping
  4 February 2007

  Pathology
  mental retardation Molecular karyotyping has revealed that microdeletions/duplications in the human genome are a major cause of multiple congenital anomalies associated with mental retardation (MCA/MR). The identification of a de novo chromosomal imbalance in a patient with MCA/MR is usually considered causal for the phenotype while a chromosomal imbalance inherited from a phenotypically normal parent is considered as a benign variation and not related to the disorder.
  See (...)

• segmental copy number alterations
  27 January 2007

  recurrent minimal genomic alterations; focal copy number alterations; segmental CNAs
  See also
  - copy number alterations (CNAs )
  References
  Lockwood WW, Coe BP, Williams AC, MacAulay C, Lam WL. Whole genome tiling path array CGH analysis of segmental copy number alterations in cervical cancer cell lines. Int J Cancer. 2007 Jan 15;120(2):436-43. PMID: #17096350#
  Rouveirol C, Stransky N, Hupe P, Rosa PL, Viara E, Barillot E, Radvanyi F. Computation of recurrent minimal genomic (...)

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