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Cytogenetic verification of chromosomal aberrations

This part of the project concerned molecular cytogenetic studies with the aim to better define breakpoints of structural chromosome aberrations in cases to be referred to the ECARUCA database, especially from laboratories with limited facilities for e.g. FISH diagnostics and microsatellite marker analysis.

The investigations so far included 153 cases, partly with inclusion of parental samples. The cases came from the following countries: Armenia, Austria, Bulgaria, Georgia, Germany, Italy, Lebanon, Lithuania, Romania, Russia, Serbia, Slovenia, Spain, Switzerland, Syria, Turkey, Ukraine. In most of these cases, an initial attempt was already made to define the breakpoints and chromosomes involved in the rearrangement, but in a few cases the aberration was only vaguely described.

In all cases the examination yielded results in the sense that the breakpoints could be confidently defined. In the majority of the cases, the initial determination had to be revised, in some cases even the chromosome(s) involved was/were incorrectly described. For example, a ring(Y) turned out to be a ring(21), a monosomy 21 was an unbalanced 18;21 translocation with partial monosomy 21 and 18q, and a deletion within the long arm of chromosome 1 had breakpoints which did not even overlap with the initially assumed breakpoints.

The general rule was that we reported the results to the referring laboratory or physician in order to allow him or her to refer the case directly to the database, but in some cases, we did the referral ourselves. Especially interesting cases were subject to particular case reports for publication in specialized journals, see below.

There would be an ongoing need for further such examinations. However, the budget of the project has been fully consumed, and the budget of our institute allows only in exceptional (scientifically interesting) cases to go on with such examinations.

Reported by

Institut für Med.Genetik, Univ.Zürich
8603 Schwerzenbach
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