Two cases with partial trisomy 9p: Molecular cytogenetic characterization and clinical follow-up
β Scribed by Littooij, Annemieke S. ;Hochstenbach, Ron ;Sinke, Richard J. ;van Tintelen, Peter ;Giltay, Jacques C.
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 235 KB
- Volume
- 109
- Category
- Article
- ISSN
- 0148-7299
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We report on two additional cases with duplication of 9p, minor with facial anomalies and developmental delay. Using fluorescence in situ hybridization and single-copy probes, we showed that the first case was a direct duplication, whereas the second case was inverted. The extent of the direct dupli
## Abstract Partial duplications of the short arm of the X chromosome are relatively rare and have been described in males and females. We describe a $4{\raise0.5ex\hbox{$\scriptstyle {10}$}\kern-0.1em/\kern-0.15em\lower0.25ex\hbox{$\scriptstyle {12}$}}$βyearβold girl presenting with developmental
Please note that Figure 2A needed correction. [A] FISH using subtelomere probes [TelVysion 2p Spectrum green (VIJyRM2052) and TelVysion 2q Spectrum orange (VIJyRM2123)] from Abbott Molecular. The legend is correct; however, the chromosome on the left should have a red signal designated with q and n