Prenatal Diagnosis of a (X;X) Translocation by Fluorescence in situ Hybridization and Laser Scanning Image Cytometry
| Autor: | Philippe Metezeau, Luc Druart, Jean-François Oury, Valère Cacheux, Gérard Tachdjian, Philippe Blot, Hélène Kiefer, Jean-Michel Lapierre |
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| Rok vydání: | 1995 |
| Předmět: |
Adult
In situ Embryology X Chromosome Isochromosome Chromosomal translocation In situ hybridization Biology Translocation Genetic Pregnancy Prenatal Diagnosis medicine Humans Radiology Nuclear Medicine and imaging In Situ Hybridization Fluorescence Sex Chromosome Aberrations X chromosome Image Cytometry medicine.diagnostic_test Obstetrics and Gynecology General Medicine Molecular biology Pediatrics Perinatology and Child Health Female Cytometry Fluorescence in situ hybridization |
| Zdroj: | Fetal Diagnosis and Therapy. 10:387-392 |
| ISSN: | 1421-9964 1015-3837 |
| DOI: | 10.1159/000264263 |
| Popis: | A de novo structural abnormality of one X chromosome was prenatally detected in a female fetus. This chromosomal abnormality has been analyzed by conventional cytogenetic methods, fluorescence in situ hybridization, and laser scanning image cytometry. The association of these techniques has demonstrated that this anomaly corresponds to a (X;X) translocation. Analysis of hybridization signals by laser scanning image cytometry allowed to localize that the breakpoints were at the X-centromeric region and Xp11.3, respectively. These results show the usefulness of image analysis and fluorescence in situ hybridization for a rapid characterization of de novo structural chromosome anomalies in prenatal diagnosis. |
| Databáze: | OpenAIRE |
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