Detection of chromosomal abnormalities in formalin-fixed and paraffin-embedded autopsy material from fetuses using FISH

Autor: Borgny Ytterhus, Ingeborg Engesvold, Christina Vogt Isaksen
Jazyk: Danish<br />Norwegian<br />Swedish
Rok vydání: 2009
Předmět:
Zdroj: Bioingeniøren, Vol 44, Iss 2, Pp 6-10 (2009)
Druh dokumentu: article
ISSN: 0801-6828
1890-1875
Popis: Spontaneous abortions or intrauterine foetal deaths are in 60-70 percent of the cases caused by trisomy 13, 18, 21 or Turner syndrome. Fluorescence in situ hybridization (FISH) with centromere or locus specific probes for chromosome 13, 18, 21, X and Y was performed on formalin-fixed and paraffin-embedded material from ten aborted fetuses with suspected chromosome abnormality. A chromosome aberration was detected in four of ten cases. Two foetuses were identified as trisomy 21 (Down syndrome), one had trisomy 18 (Edward syndrome) and one female fetus had monosomy X (Turner syndrome). In six cases no abnormality was detected for any of the probes examined. Optimal pre-treatment of nuclei from autopsy material with a commercial kit (Histology FISH Accessory Kit) resulted in successful hybridization in 91.4 percent of the specimens. In cases not previously karyotyped, this pre-treatment has simplified the implementation of FISH on autopsy material.
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