Diagnóstico prenatal de trisomía 9 en mosaico en el segundo trimestre de la gestación / Prenatal diagnosis of trisomy 9 mosaicism in the second trimester of pregnancy
Prog. obstet. ginecol. (Ed. impr.)
; 51(10): 635-640, oct. 2008. ilus
Article
em Es
| IBECS
| ID: ibc-68581
Biblioteca responsável:
ES15.1
Localização: ES15.1 - BNCS
Presentamos un caso de trisomía 9 en mosaico, diagnosticada de forma prenatal en una mujer de 39 años a la que se practicó una amniocentesis por edad materna avanzada. En el análisis citogenético se observó un rango entre un 15 y un 30% de la línea celular con trisomía 9 en los diferentes tejidos analizados; esta infrecuente alteración cromosómica suele presentar diversas anomalías morfológicas que se traducen en signos ecográficos que, aun no siendo específicos de la afección, pueden ser útiles para llegar a una sospecha prenatal de la trisomía 9. Describimos nuestros hallazgos citogenéticos y ecográficos, así como las alteraciones encontradas en la autopsia fetal
We present a case of trisomy 9 in mosaic, diagnosed during prenatal period in a 39 year-old woman, who had amniocentesis for maternal advanced age. By cytogenetic analysis, we found between 15-30% aneuploidy in different fetal tissues. This chromosomal rare alteration usually presents diverse morphological anomalies that are translated in ultrasound signs that, although not specific of this pathology, can be useful to arrive to a prenatal suspicion of trisomy 9. We describe our cytogenetic and ultrasound diagnosis, as well as the alterations found in fetal autopsy
We present a case of trisomy 9 in mosaic, diagnosed during prenatal period in a 39 year-old woman, who had amniocentesis for maternal advanced age. By cytogenetic analysis, we found between 15-30% aneuploidy in different fetal tissues. This chromosomal rare alteration usually presents diverse morphological anomalies that are translated in ultrasound signs that, although not specific of this pathology, can be useful to arrive to a prenatal suspicion of trisomy 9. We describe our cytogenetic and ultrasound diagnosis, as well as the alterations found in fetal autopsy
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Base de dados:
IBECS
Assunto principal:
Trissomia
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
Es
Ano de publicação:
2008
Tipo de documento:
Article