Hybridization of the 18 alpha-satellite probe to chromosome 1 revealed in PGD
Language English Country Netherlands Media print
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
PubMed
18983755
DOI
10.1016/s1472-6483(10)60318-5
PII: S1472-6483(10)60318-5
Knihovny.cz E-resources
- MeSH
- Aneuploidy MeSH
- DNA Probes genetics MeSH
- Adult MeSH
- In Situ Hybridization, Fluorescence MeSH
- Humans MeSH
- Chromosomes, Human, Pair 1 genetics MeSH
- Chromosomes, Human, Pair 18 genetics MeSH
- Mosaicism MeSH
- Polymorphism, Genetic MeSH
- Preimplantation Diagnosis * MeSH
- DNA, Satellite genetics MeSH
- Pregnancy MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Male MeSH
- Pregnancy MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- DNA Probes MeSH
- DNA, Satellite MeSH
Although the chromosome 18 alpha-satellite probe is considered to have a very low polymorphism rate, the routine use of this probe in prenatal diagnosis revealed rare variants in size and copy number of these sequences. A polymorphic signal was detected in preimplantation genetic diagnosis (PGD) for aneuploidy, in a patient with repeated early miscarriages. A third small signal of chromosome 18 alpha-satellite probe was observed in two of four evaluated embryos. Hybridization to the woman's metaphasic lymphocytes revealed that the small signal was localized in the pericentromeric region of chromosome 1. Reanalysis of blastomeres with telomeric probes for chromosome 18q confirmed the presence of only two copies of chromosome 18. Options for verifying PGD analysis results, to prevent misdiagnosis in cases of suspected polymorphism, are discussed. Although some authors speculate about a possible role of heterochromatin polymorphism in infertility, this rare polymorphism of 18 alpha-satellite sequences is in itself probably a normal variant. This is the third report of a cross-hybridization of the chromosome 18 alpha-satellite probe and the first report of the localization of the polymorphic 18 alpha-satellite signal to chromosome 1.
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