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http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2268| Título : | Detection of mosaicism in lymphocytes of parents of free trisomy 21 offspring. |
| Creador: | Frias, Sara |
| Nivel de acceso: | Open access |
| Palabras clave : | Aneuploida Aberraciones cromosómicas Cromosomas humanos par 21 - genética Síndrome de Down - genética Hibridación Fluorescente In Situ Linfocitos - fisiología Edad materna Mosaicism Fenotipo Embarazo de alto riesgo Factores de riesgo Trisomía Aneuploidy Chromosome Aberrations Chromosomes, Human, Pair 21 - genetics Down Syndrome - genetics In Situ Hybridization, Fluorescence Lymphocytes - physiology Maternal Age Mosaicism Phenotype Pregnancy, High-Risk 12 Risk Factors Trisomy |
| Descripción : | Down syndrome (DS) resulting from free trisomy 21 (FT21) has been largely associated with advanced maternal age. However, approximately 60% of FT21 cases are born to young couples. Thus, the etiological factors responsible for these FT21 children must differ from those proposed for maternal age-related FT21. These factors have not been defined. In this study, we analyzed the chromosomes of peripheral blood lymphocytes from three groups of couples aged < or =35 years, to identify chromosomal trisomies: Group I included 5 couples with normal offspring; Group II included 22 couples with one FT21 child; and Group III consisted of 3 couples with recurrent FT21. A total of 13,809 metaphases were analyzed with G-banding and 60,205 metaphases were analyzed with FISH using a 13/21 centromeric probe. Aneuploidy was significantly more frequent in Groups II and III. The frequencies of hyperdiploid cells were 0.19, 0.49 and 0.96% in Groups I-III, respectively. FISH analysis showed that trisomy 21 cell percentages were 0.08, 0.21 and 0.76 for Groups I-III, respectively, and were very similar to those obtained with G-banding. Trisomy 21 mosaicism was found in 2/22 couples with one FT21 offspring, and in 2/3 couples with recurrent FT21. Our data suggest that mosaicism is an important cause of FT21 offspring in young couples, and that aneuploidy is more frequent among couples with FT21 offspring. This may be related with age and other undetermined intrinsic and extrinsic factors. |
| Colaborador(es) u otros Autores: | Ramos S Molina B Castillo del V Mayén DG. |
| Fecha de publicación : | 2002 |
| Tipo de publicación: | Artículo |
| Formato: | |
| Identificador del Recurso : | 10.1016/S1383-5718(02)00163-8 |
| Fuente: | Mutation Research/Genetic Toxicology and Environmental Mutagenesis 520(42767):25-37 |
| URI : | http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2268 |
| Idioma: | spa |
| Aparece en las colecciones: | Artículos |
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