- Tytuł:
- Indentification of three different chromosomal additions by chromosome painting using fluorescence in situ hybridization [FISH] technique
- Autorzy:
-
Bocian, E
Stankiewicz, P
Stanczak, H
Obersztyn, E
Mazurczak, T - Powiązania:
- https://bibliotekanauki.pl/articles/2047283.pdf
- Data publikacji:
- 1996
- Wydawca:
- Polska Akademia Nauk. Czytelnia Czasopism PAN
- Tematy:
-
chromosomal addition
fluorescence in situ hybridization method
hybridization
chromosome painting
cytogenetics - Opis:
- 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 additional chromosomal fragment, FISH with multiple chromosome-specific libraries (chromosome painting), allows to solve this diagnostic problem rapidly. Three chromosomal additions, 7q+, 13p+ and 22q+, found in routine cytogenetic studies performed in children with phenotypic abnormalities were analysed using FISH. This technique documented the origin of the extra material to be derived from chromosome 16[der(7)t(7; 16)(q36.3;p 13.11)], 18[der(13)t(13; 18)(p12;q 12.2)] and 22[dup(22)(q11.2q13.1)], respectively. In two cases the abnormality arose de novo, while in the third case the product of translocation t(13;18) was maternal 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 presented cases the chromosome analysis with both traditional banding and chromosome painting techniques, allowed to establish final clinical diagnosis.
- Źródło:
-
Journal of Applied Genetics; 1996, 37, 2; 197-204
1234-1983 - Pojawia się w:
- Journal of Applied Genetics
- Dostawca treści:
- Biblioteka Nauki
Artykuł