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1 Journal of Applied Genetics

1 1996

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Supernumerary marker chromosomes characterized by fluorescence in situ hybridization (FISH)

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Bocian E. , Stankiewicz P. , Stanczak H. , Obersztyn E. , Korniszewski L. , Mazurczak T.

Journal of Applied Genetics

1996

tom 37

nr 3

313-324

Until recently marker chromosomes have presented a difficult diagnostic problem for cytogeneticists as well as for clinicians.Introducing of FISH to cytogenetic analysis has enabled identification of their origin giving possibility to outline specific phenotypic effect of defined marker chromosomes.Nine marker chromosomes were analysed with FISH using centromeric probes, chromosome-specific libraries and unique DNA sequences probes for PWS/AS critical region.The origin from acrocentric chromosomes was established in 6 cases.One marker was a product of maternal 11;22 translocation and two others were pericentromeric regions of chromosome 2 and 4.Among 6 markers, derived from acrocentric chromosomes, 2 consisted of pericentromeric part of chromosome 15, one was identified as mar (21) and in 3 other cases the origin could not be differentiated between chromomsomes including the risk for chromomsomal nondisjunction and trisomy 21 as well as the risk uniparental disomy (UPD) are discussesd.