PL EN


Preferences help
enabled [disable] Abstract
Number of results
1996 | 37 | 2 | 197-204
Article title

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

Title variants
Languages of publication
EN
Abstracts
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.
Discipline
Publisher

Year
Volume
37
Issue
2
Pages
197-204
Physical description
Contributors
author
author
author
author
References
Document Type
article
Publication order reference
E.Bocian
Identifiers
YADDA identifier
bwmeta1.element.element-from-psjc-43996f25-43df-3cf2-a219-8d20851e78c2
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.