Characterization of i(18p) in prenatal diagnosis by fluorescencein situ hybridization
| Autor: | Boris B. T. Wang, Marc Vooljs, Kuang-Lin Ying, Masaru Sakamoto, John W Williams, Loh-Chung Yu, Heinz-Ulrich G. Weier |
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| Rok vydání: | 1993 |
| Předmět: |
Adult
medicine.medical_specialty Marker chromosome Chorionic villus sampling Biology Pregnancy Chromosome 18 Prenatal Diagnosis medicine Humans In Situ Hybridization Genetics (clinical) Fluorescent Dyes Chromosome Aberrations medicine.diagnostic_test Hybridization probe Cytogenetics Obstetrics and Gynecology Karyotype Molecular biology Pregnancy Trimester First Chorionic Villi Sampling Genetic marker Female Chromosomes Human Pair 18 Fluorescence in situ hybridization |
| Zdroj: | Prenatal Diagnosis. 13:355-361 |
| ISSN: | 1097-0223 0197-3851 |
| DOI: | 10.1002/pd.1970130507 |
| Popis: | A case is presented in which chorionic villus direct preparation and cultured chorionic villus cells revealed a 47,XX+mar karyotype. The marker was a small metacentric chromosome and appeared to be i(18p)--isochromosome 18p. Follow-up studies in both amniotic fluid and fetal fibroblasts confirmed the karyotype. In order to characterize the marker, a panel of biotinylated DNA probes was used, including a whole chromosome 18 probe, chromosome 18-specific alpha satellite DNA, Yac clones, and a pan-telomeric probe. These studies show that the marker is a monocentric i(18p) in which about 80 per cent of chromosome 18 alpha satellite DNA has been lost. |
| Databáze: | OpenAIRE |
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