Reestructuraciones compatibles con un fenotipo normal detectadas en diagnóstico prenatal / Chromosome reorganizations compatible with a normal phenotype detected during a prenatal diagnosis
Diagn. prenat. (Internet)
; 24(3): 117-125, jul.-sept. 2013.
Article
in Es
| IBECS
| ID: ibc-115219
Responsible library:
ES1.1
Localization: BNCS
RESUMEN
Introducción. Se conocen numerosas reestructuraciones cromosómicas compatibles con un fenotipo normal, principalmente algunos cromosomas marcadores sin contenido genéticamente relevante y heteromorfismos cromosómicos. Material y métodos. Estudio retrospectivo de 20.098 casos prenatales. Resultados. Se han detectado 24/17.784 casos (0,13%) de pequeños cromosomas marcadores (SMC) en líquido amniótico, 8/2.223 (0,36%) en vellosidad corial y 31/20.007 (0,15%) reestructuraciones estructurales clasificadas como heteromorfismos. Conclusiones. Se proponen guías de actuación basándose en nuestra experiencia y la bibliografía existente(AU)
ABSTRACT
Introduction. Many chromosome reorganizations compatible with a normal phenotype are known, mainly some marker chromosomes with no genetically relevant content or chromosomal heteromorphisms. Material and methods. Retrospective study of 20,098 prenatal cases. Results. We detected 24/17,784 cases (0.13%) of small marker chromosomes (SMCs) in amniotic fluid, 8/2223 (0.36%) in chorionic villus, and 31/20,007 (0.15%) structural reorganizations classified as heteromorphisms. Conclusions. Clinical practice guidelines are proposed based on our experience and the literature(AU)
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Collection:
06-national
/
ES
Database:
IBECS
Main subject:
Phenotype
/
Prenatal Diagnosis
/
Genetic Markers
Type of study:
Diagnostic_studies
/
Guideline
/
Observational_studies
Limits:
Female
/
Humans
/
Male
Language:
Es
Journal:
Diagn. prenat. (Internet)
Year:
2013
Document type:
Article