Full-text resources of PSJD and other databases are now available in the new Library of Science.
Visit https://bibliotekanauki.pl
Preferences help
Polish version English version Language
enabled [disable] Abstract
Number of results

Results found: 2

Number of results on page
first rewind previous Page / 1 next fast forward last

Search results

help Sort By:

help Limit search:
first rewind previous Page / 1 next fast forward last
1

Identification of three different chromosomal additions by chromosome painting using fluorescence in situ hybridization (FISH) technique

100%
Bocian E., Stanczak H., Obersztyn E., Mazurczak T.
Journal of Applied Genetics
|
1996
|
vol. 37
|
issue 2
197-204
EN
Fluorescence in situ hybridization (FISH) is a very useful method for assessing chromosome rearrangements.When neither banding pattern nor clinical symptoms are sufficient to determine the origin of additoinal chromosomal fragments, FISH with multiple chromosome-specific libraries allows to solve this diagnostic problem rapidly.Three chromosomal additions, 7q+, 13p+ and 22 q+, found in routine cytogenetic studies performed in children with phenotypic abnormalities were analysed using FISH.This technique documented the origin of extra matrial to be derived from chromosome 16[der(7)t(7;16)(q36.3;p13.110], 18[der(13)t(13;18)(p12;q12.2)] and 22[dup(22)(q11.2q13.1)], repectively.In two cases the abnormality arose de novo, while in the third case the product of translocation t(13;18) was ,matrnal by origin.It was present in 30% of mother's lymphocytes, and in 70% of them a balanced Robertsonian translocation t(13q;15q) was found.In the present cases the chromosome analysis with both traditional banding and chromosome painting techniques, allowed to establish final clinical diagnosis.
2

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

76%
Bocian E., Stankiewicz P., Stanczak H., Obersztyn E., Korniszewski L., Mazurczak T.
Journal of Applied Genetics
|
1996
|
vol. 37
|
issue 3
313-324
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.
first rewind previous Page / 1 next fast forward last
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.