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

• Autorzy: E. Bocian , H. Stanczak , E. Obersztyn , T. Mazurczak
• Języki publikacji: EN

Abstrakty

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.

Słowa kluczowe

EN

CHROMOSOMAL ADDITION; CHROMOSOME PAINTING; CYTOGENETICS; FLUORESCENCE; IN SITU HYBRIDIZATION

• Czasopismo: Journal of Applied Genetics
• Rocznik: 1996
• Tom: 37
• Numer: 2
• Strony: 197-204

Twórcy

autor

E. Bocian

autor

H. Stanczak

autor

E. Obersztyn

autor

T. Mazurczak

• Typ dokumentu: article
• Bibliografia: E.Bocian