engleski

Evaluation of chromosomal mosaicism by aCGH and MLPA:molecular characterization of mosaic ring chromosome 22.

The clinical phenotype of 22q13.3 deletion syndrome may include different clinical features like developmental delay, dysmorphic face and autistic-like behavior. In case of mosaic ring chromosome 22, associated frequently with partial monosomies, variable clinical manifestations may be seen. Those are thought to be due to different sizes of deleted subregions at 22qter and the grade of mosaicism. In some cases mosaicism may go undetected as the presence of normal cells can mask the presence of abnormal cells. Here we could show that MLPA is less sensitive in detecting mosaicism than aCGH. Difficulties in the interpretation of certain MLPA probe sets are probably due to the probes present in the corresponding kits. Consequently, this can affect the diagnostic potential of MLPA technique in general and especially for detection of mosaic cases.

Mosaicism; ring 22; MPLA; arrayCGH

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