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Cross-hybridization of the chromosome 13/21 alpha satellite DNA probe to chromosome 22 in the prenatal screening of common chromosomal aneuploidies by fish
- Source :
- Prenatal Diagnosis. 15:831-834
- Publication Year :
- 1995
- Publisher :
- Wiley, 1995.
-
Abstract
- In a routine application of commercially available centromeric DNA probes for the prenatal screening of common trisomies involving the autosomes 13, 18, and 21, and sex chromosomes, four cases of discrepancy between fluorescence in situ hybridization (FISH) results and follow-up cytogenetic analysis were observed from a total of 516 cases of amniocentesis. In three of these cases, the results were false negative, and in one false positive. In this case, amniocentesis was performed because of a positive triple test in a 34-year-old woman with previous infertility treatment. The alpha satellite DNA probe for chromosomes 13/21 revealed five signals in 50 per cent of uncultured amniocytes, while standard cytogenetic analysis showed a normal karyotype. FISH analysis on metaphase chromosomes demonstrated the location of the additional signal in the centromeric region of chromosome 22. This additional signal was also present in the centromeric region of chromosome 22 of the mother, providing evidence for a possible inherited polymorphism in chromosome 22 responsible for unspecific hybridization with the alpha satellite probe for chromosomes 13/21 in this case. The observed polymorphism in centromeric regions may contribute to unreliability of the use of the 13/21 alpha satellite probe for prenatal screening by FISH.
- Subjects :
- Adult
medicine.medical_specialty
Aneuploidy
DNA, Satellite
Biology
Pregnancy
Chromosomes, Human, 21-22 and Y
medicine
Humans
Genetic Testing
Prospective Studies
Diagnostic Errors
Cells, Cultured
In Situ Hybridization, Fluorescence
Genetics (clinical)
Chromosome 13
Genetics
Polymorphism, Genetic
Autosome
Chromosomes, Human, Pair 13
medicine.diagnostic_test
Hybridization probe
Cytogenetics
Obstetrics and Gynecology
Karyotype
Amniotic Fluid
medicine.disease
Molecular biology
Karyotyping
Amniocentesis
Female
DNA Probes
Chromosome 22
Fluorescence in situ hybridization
Subjects
Details
- ISSN :
- 10970223 and 01973851
- Volume :
- 15
- Database :
- OpenAIRE
- Journal :
- Prenatal Diagnosis
- Accession number :
- edsair.doi.dedup.....408009cb7bfd0bf989451efba5f0f618