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Case Reports
. 1993 Sep;44(3):156-63.
doi: 10.1111/j.1399-0004.1993.tb03869.x.

Molecular cytogenetic analysis of a familial pericentric inversion of chromosome 12

F Speleman  1 , N Van Roy, E De Vos, C Hilliker, R F Suijkerbuijk, J G Leroy
Affiliations
Case Reports

Molecular cytogenetic analysis of a familial pericentric inversion of chromosome 12

F Speleman et al. Clin Genet. 1993 Sep.

Abstract

We describe the application of multi-color fluorescence in situ hybridization (FISH) in the characterization of a familial pericentric inversion. Using chromosome 12 short- and long-arm specific DNA probes, fast and reliable discrimination between normal and inversion chromosome 12 or recombinant inversion chromosome 12 was possible. FISH thus provides a reliable means for prenatal detection of balanced or unbalanced chromosome 12 rearrangements in this family. This approach is possible for identification of similar chromosome rearrangements provided that probes for the putatively involved chromosome region are available.

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