| Revista: | Genetics and molecular biology |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000330873 |
| ISSN: | 1415-4757 |
| Autores: | Borovik, Cleide L1 Perez, Ana Beatriz A2 Silva, Luciana R.J. da1 Krepischi-Santos, Ana Cristina V3 Costa, Silvia S3 Rosenberg, Carla3 |
| Instituciones: | 1Hospital Israelita Albert Einstein, Departamento de Patologia Clinica, Sao Paulo. Brasil 2Centro de Medicina Genetica, Departamento de Morfologia e Pediatria, Sao Paulo. Brasil 3Universidade de Sao Paulo, Instituto de Biociencias, Sao Paulo. Brasil |
| Año: | 2008 |
| Periodo: | Jun |
| Volumen: | 31 |
| Número: | 2 |
| Paginación: | 416-422 |
| País: | Brasil |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Experimental, aplicado |
| Resumen en inglés | In about 50% of first trimester spontaneous abortion the cause remains undetermined after standard cytogenetic investigation. We evaluated the usefulness of array-CGH in diagnosing chromosome abnormalities in products of conception from first trimester spontaneous abortions. Cell culture was carried out in short- and long-term cultures of 54 specimens and cytogenetic analysis was successful in 49 of them. Cytogenetic abnormalities (numerical and structural) were detected in 22 (44.89%) specimens. Subsequent, array-CGH based on large insert clones spaced at ~1 Mb intervals over the whole genome was used in 17 cases with normal G-banding karyotype. This revealed chromosome aneuplodies in three additional cases, giving a final total of 51% cases in which an abnormal karyotype was detected. In keeping with other recently published works, this study shows that array-CGH detects abnormalities in a further ~10% of spontaneous abortion specimens considered to be normal using standard cytogenetic methods. As such, array-CGH technique may present a suitable complementary test to cytogenetic analysis in cases with a normal karyotype |
| Disciplinas: | Medicina |
| Palabras clave: | Genética, Aborto espontáneo, Aberraciones cromosómicas, Análisis citogenético |
| Keyword: | Medicine, Genetics, Spontaneous abortion, Chromosomal aberrations, Cytogenetic analysis |
| Texto completo: | Texto completo (Ver HTML) |
