Evidence for High Frequency of Chromosomal Mosaicism in Spontaneous Abortions Revealed by Interphase FISH Analysis
| Autor: | Elena A. Kirillova, Alexei D. Kolotii, V.V. Monakhov, Ivan Y. Iourov, I.V. Soloviev, Svetlana G. Vorsanova, Yuri B. Yurov |
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| Rok vydání: | 2005 |
| Předmět: |
Adult
0301 basic medicine Histology Adolescent Aneuploidy In situ hybridization Biology Polyploidy 03 medical and health sciences medicine Chromosomes Human Humans Mitosis In Situ Hybridization Fluorescence X chromosome Chromosome Aberrations 030102 biochemistry & molecular biology medicine.diagnostic_test Mosaicism Hybridization probe medicine.disease Molecular biology Abortion Spontaneous 030104 developmental biology Chromosome abnormality Female Interphase Anatomy Fluorescence in situ hybridization |
| Zdroj: | Journal of Histochemistry & Cytochemistry. 53:375-380 |
| ISSN: | 1551-5044 0022-1554 |
| DOI: | 10.1369/jhc.4a6424.2005 |
| Popis: | Numerical chromosomal imbalances are a common feature of spontaneous abortions. However, the incidence of mosaic forms of chromosomal abnormalities has not been evaluated. We have applied interphase multicolor fluorescence in situ hybridization using original DNA probes for chromosomes 1, 9, 13, 14, 15, 16, 18, 21, 22, X, and Y to study chromosomal abnormalities in 148 specimens of spontaneous abortions. We have detected chromosomal abnormalities in 89/148 (60.1%) of specimens. Among them, aneuploidy was detected in 74 samples (83.1%). In the remaining samples, polyploidy was detected. The mosaic forms of chromosome abnormality, including autosomal and sex chromosomal aneuploidies and polyploidy (31 and 12 cases, respectively), were observed in 43/89 (48.3%) of specimens. The most frequent mosaic form of aneuploidy was related to chromosome X (19 cases). The frequency of mosaic forms of chromosomal abnormalities in samples with male chromosomal complement was 50% (16/32 chromosomally abnormal), and in samples with female chromosomal complement, it was 47.4% (27/57 chromosomally abnormal). The present study demonstrates that the postzygotic or mitotic errors leading to chromosomal mosaicism in spontaneous abortions are more frequent than previously suspected. Chromosomal mosaicsm may contribute significantly to both pregnancy complications and spontaneous fetal loss. |
| Databáze: | OpenAIRE |
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