Riegel Baumer

Fakultäten » Medizinische Fakultät » Medizinische Genetik, Institut für » Prof. Dr. Albert Schinzel (emeritiert) » Riegel Baumer

Completed research project

Title / Titel	Investigation of the origin of de novo extra chromosomes and structural rearrangements through chromosome dissection and reverse painting
PDF	Abstract (PDF, 14 KB)
Summary / Zusammenfassung	So far, demonstration of the origin of de novo marker chromosomes was in general difficult and time-consuming. With a new technique of chromosome dissection and reverse painting which we recently introduced, this task has become relatively effective and allows, especially in combination with FISH and microsatellite marker analysis, a rapid and reliable identification of such aberrations. This is particularly important in prenatal diagnosis after such an extra chromosome has been found. So far, about 15 cases have been investigated with interesting results, and the method has also been proven to be a good complementation to FISH analysis with chromosome libraries since it allows to distinguish between terminal and interstitial deletions. We plan to add to the spectrum the dissection of specific chromosome regions.
Project leadership and contacts / Projektleitung und Kontakte	Mariluce Riegel (Project Leader) riegel@medgen.uzh.ch Alessandra Baumer (Project Leader) baumer@medgen.uzh.ch Albert Schinzel schinzel@medgen.uzh.ch
Funding source(s) / Unterstützt durch	Universität Zürich (position pursuing an academic career)
In collaboration with / In Zusammenarbeit mit	Prof. S. Basaran, Istanbul Turkey Dr. T. Zerova, Kyiv Ukraine Prof.M.Walasek, Warshaw Poland
Duration of Project / Projektdauer	Jan 1997 to Dec 2006