Centromere-specific multicolour FISH - method for the identification of marker-chromosomes : case report demonstrating our first experiences
Abstract
poster: Scientific Confernce of Charles University - 2nd Faculty of Medicine The long term aim of our work is to optimize the diagnostic algorithm of supernumerary marker chromosomes (sSMC). If we want to predict the possible phenotypic prognosis of sSMC in prenatal examinations, or association with phenotypic abnormalities at a born person respectively, it is necessary to pinpoint chromosome origin of such sSMC, and determine countained genetic material.
This procedure is demonstrated in this case. Centromeric mFISH in this case permited rapid and accurate determination of sSMC.
Nevertheless, there are some drawbacks of this approach, including in particular the fact that the probe mix does not indicate all the human chromosomes, therefore it can detect up to 30% of sSMC (e.g. derivatives of chromosomes 13, 14, 20, 21, 22, Y and analfoidní markers). Not suitable for examination mosaics low representation SSMC that require analysis of a large number of cells.
The disadvantage is a higher price. Our case shows that in specific cases allows mFISH prices (in combination with other procedures) to identify the origin SSMC.
It provides a first orientation for emergency prenatal testing, or may be part of a more complex diagnostic algorithm.