title: New cytogenetically visible copy number variant in region 8q21.2.
abstract: BACKGROUND
  Cytogenetically visible unbalanced chromosomal abnormalities (UBCA), reported for >50 euchromatic regions of almost all human autosomes, are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. It may be speculated, that some of the UBCA may be similar or identical to copy number variants (CNV) of the human genome.
  
  
  RESULTS
  Here we report on a yet unreported cytogenetically visible copy number variant (CNV) in the long arm of chromosome 8, region 8q21.2, detected in three unrelated clinically healthy carriers.
  
  
  CONCLUSIONS
  The first description of a cytogenetically visible CNV/UBCA in 8q21.2 shows that banding cytogenetics is far from being outdated. It is a cost efficient, up-to-date method for a single cell specific overview on the whole genome, still prepared to deliver unexpected findings.
authors.affiliation: Jena University Hospital, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany. i8lith@mti.uni-jena.de.
authors.forename: Marina
authors.initials: M
authors.lastname: Manvelyan
authors.forename: Friedrich W
authors.initials: FW
authors.lastname: Cremer
authors.forename: Jeannette
authors.initials: J
authors.lastname: Lancé
authors.forename: Rüdiger
authors.initials: R
authors.lastname: Kläs
authors.forename: Christina
authors.initials: C
authors.lastname: Kelbova
authors.forename: Christian
authors.initials: C
authors.lastname: Ramel
authors.forename: Herbert
authors.initials: H
authors.lastname: Reichenbach
authors.forename: Catharina
authors.initials: C
authors.lastname: Schmidt
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Ewers
authors.forename: Katharina
authors.initials: K
authors.lastname: Kreskowski
authors.forename: Monika
authors.initials: M
authors.lastname: Ziegler
authors.forename: Nadezda
authors.initials: N
authors.lastname: Kosyakova
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr