Elucidation of the centromere involvement in an inversion (13) by fluorescent in situ hybridisation
| ISSN: | 1468-6244 |
|---|---|
| DOI: | 10.1136/jmg.30.5.414 |
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34f82bc74492c9606635d328ae52ccd0 https://doi.org/10.1136/jmg.30.5.414 |
| Rights: | OPEN |
| Přírůstkové číslo: | edsair.doi.dedup.....34f82bc74492c9606635d328ae52ccd0 |
| Autor: | Martens Pr, J D Dalton, Patricia L. Gordon, Avirachan T. Tharapel, R. S. Wilroy |
| Rok vydání: | 1993 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent Derivative chromosome Centromere Trisomy Biology Genetics medicine Humans Abnormalities Multiple In Situ Hybridization Fluorescence Genetics (clinical) Chromosome 13 Chromosomal inversion Chromosomes Human Pair 13 Infant Newborn Cytogenetics Chromosome Karyotype Molecular biology Chromosome Banding Karyotyping Chromosome Inversion Female DNA Probes Research Article Satellite chromosome |
| Zdroj: | Journal of Medical Genetics. 30:414-416 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.30.5.414 |
| Popis: | A newborn infant with phenotypic features of trisomy for distal 13q was found to have recombinant inversion duplication involving the (13)(q22-->qter) region. Parental karyotypes showed that the mother had a normal 46,XX complement and the father had an apparently balanced pericentric inversion of a chromosome 13. Because of the unusual nature of the inversion, the exact position of the centromere on the father's inverted chromosome 13 was difficult to assign by GTG banding, even on prometaphase chromosomes. CBG and NOR banding were not informative in determining the location of the centromere. Fluorescent in situ hybridisation with an alpha satellite DNA probe for D13Z1/D21Z1 helped in confirming the exact position of the centromere in the rearranged paternal chromosome. Thus, the origin of the proband's abnormal chromosome 13 was clarified. |
| Databáze: | OpenAIRE |
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