Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
9935796 | European Journal of Medical Genetics | 2005 | 9 Pages |
Abstract
A dysmorphic patient was shown to carry a small supernumerary marker chromosome. Multicolor, centromere-multicolor and regular FISH experiments proved the marker to be an analphoid 12pter derived isochromosome. Microdissection of the marker followed by reverse painting and array CGH analysis showed that the isochromosome contains approximately 6Â Mb of 12pter-12p13.31 derived sequence. This is only the second report of a marker with a neocentromere 12pter and the molecular fine mapping of the duplicated region further refines the 12p region defining the Pallister-Killian syndrome phenotype. In addition, we show the feasibility of using microdissected chromosomes or chromosomal fragments to molecularly map the chromosomal breakpoints on array CGH. This technology may aid in the identification of chromosomal translocation breakpoints.
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Authors
Joris Robert Vermeesch, Cindy Melotte, Ivo Salden, Mariluce Riegel, Vladimir Trifnov, Anna Polityko, Natalia Rumyantseva, Irina Naumchik, Heike Starke, Gert Matthijs, Albert Schinzel, Jean-Pierre Fryns, Thomas Liehr,