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Prenat Diagn ; 24(8): 635-7, 2004 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-15305353

RESUMEN

We report a 16-week-gestation foetus obtained by voluntary abortion after prenatal diagnosis, in which a ring chromosome 22 was observed with deletion of the 22q13.3 region. A prenatal study of the amniotic fluid by standard chromosome technique with G bands and FISH (fluorescence in situ hybridisation) was performed. After the abortion, the anatomopathological study of the obtained foetus was carried out. Morphological and histological analysis of the foetus did not reveal severe physical abnormalities, although alterations of the nervous system were observed consisting of corpus callosum, fornix and septum pellucidum agenesia. It could be that the genes in this region that were involved in the development of the central nervous system were responsible for the alterations found in the morphological study. The wide range of manifestations observed in patients with this cytogenetic alteration is probably due to size differences in the deleted region.


Asunto(s)
Agenesia del Cuerpo Calloso , Cromosomas Humanos Par 22/genética , Fórnix/anomalías , Eliminación de Gen , Cromosomas en Anillo , Tabique Pelúcido/anomalías , Adulto , Bandeo Cromosómico , Femenino , Edad Gestacional , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Embarazo , Diagnóstico Prenatal
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