Abstract
BackgroundCytogenetically 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.ResultsHere 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.ConclusionThe first description of a cytogenetically visible CNV/UBCA in 8q21.2 shows that banding cytogenetics is far from being outdated.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.
Highlights
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
Molecular cytogenetics applying a panel of bacterial artificial chromosomes (BACs) probes from the corresponding region in 8q21 did not show any aberrant signal patterns (RP11-27N21, RP11-260D13, RP11317J10, RP11-354A14 - results not shown)
The signal intensities were quantified in 50 to 100 interphase nuclei using the Scion Image (Scion Corp: http://en.biosoft.net/draw.html) software (Figure 3). This revealed a difference for the two BAC signals BAC RP11-96G1 of ~60% for all three cases
Summary
A CNV of 8q21.2 covered by the BAC RP11-96G1 was initially described by [5] identified by DNA-array-based methods. Three of the persons showed a gain, seven a loss of copy numbers in 86.8 to 87.0 Mb. Here for the first time the same CNV was detected as UBCA cytogenetically in three unrelated healthy persons of different ethnic origin. For the first time the same CNV was detected as UBCA cytogenetically in three unrelated healthy persons of different ethnic origin The impact of that has to be elucidated in future Overall, this description of a cytogenetically visible CNV/UBCA in 8q21.2 shows that banding cytogenetics is still far from being outdated. This description of a cytogenetically visible CNV/UBCA in 8q21.2 shows that banding cytogenetics is still far from being outdated On the contrary, it is a cost efficient up-to-date method for a single cell specific overview on the whole genome, still prepared to deliver unexpected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
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