PL EN


Preferences help
enabled [disable] Abstract
Number of results
1996 | 37 | 3 | 313-324
Article title

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

Title variants
Languages of publication
EN
Abstracts
EN
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.
Discipline
Publisher

Year
Volume
37
Issue
3
Pages
313-324
Physical description
Contributors
author
author
author
author
References
Document Type
article
Publication order reference
E.Bocian
Identifiers
YADDA identifier
bwmeta1.element.element-from-psjc-fa962ef6-71ff-3ce2-9eba-076fd7ef12be
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.