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Postnatal placental confirmation of trisomy 2 and trisomy 16 detected at chorionic villus sampling: a possible association with intrauterine growth retardation and elevated maternal serum alpha-fetoprotein.
Fryburg, J S; Dimaio, M S; Mahoney, M J.
Afiliación
  • Fryburg JS; Department of Human Genetics, Yale University School of Medicine, New Haven, CT 06510.
Prenat Diagn ; 12(3): 157-62, 1992 Mar.
Article en En | MEDLINE | ID: mdl-1375377
Detection of trisomy 2 and trisomy 16 mosaicism through chorionic villus sampling (CVS) is not an infrequent finding. We describe here two cases, one of non-mosaic trisomy 2 and the other of high level mosaicism for trisomy 16. Amniocentesis in both cases demonstrated non-mosaic 46,XY karyotypes. Each pregnancy continued to delivery of liveborn, normal-appearing boys; both pregnancies were complicated by severe intrauterine growth retardation (IUGR). Postnatal studies of placental biopsies in both cases confirmed the original CVS findings, whereas cord blood karyotypes were normal in both boys. Both children have demonstrated adequate catch-up growth.
Asunto(s)
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trisomía / Cromosomas Humanos Par 2 / Cromosomas Humanos Par 16 / Embarazo / Muestra de la Vellosidad Coriónica / Alfa-Fetoproteínas / Retardo del Crecimiento Fetal Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans Idioma: En Revista: Prenat Diagn Año: 1992 Tipo del documento: Article Pais de publicación: Reino Unido
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trisomía / Cromosomas Humanos Par 2 / Cromosomas Humanos Par 16 / Embarazo / Muestra de la Vellosidad Coriónica / Alfa-Fetoproteínas / Retardo del Crecimiento Fetal Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans Idioma: En Revista: Prenat Diagn Año: 1992 Tipo del documento: Article Pais de publicación: Reino Unido