Síndrome de Wolf-Hirschhorn (4p-). Diagnóstico prenatal de un caso asociado a oligoamnios y cardiopatía / Wolf-Hirschhorn syndrome (4p-). Prenatal detection of a case with oigoamnios and congenital heart defects
Prog. diagn. trat. prenat. (Ed. impr.)
; 19(2): 59-63, abr.-jun. 2007. ilus, tab
Article
en Es
| IBECS
| ID: ibc-68605
Biblioteca responsable:
ES15.1
Ubicación: ES15.1 - BNCS
El síndrome de Wolf-Hirschhorn (SWH) está producido poruna deleción a nivel del brazo corto del cromosoma 4 (4p). Existe una amplia variación en el tamaño de la deleción, correlacionándose el defecto citogenético con el fenotipo. La búsqueda de unos criterios ecográficos mínimos permitirán la orientación diagnóstica de este síndrome en el estudio prenatal. Presentamos un caso de una paciente que al realizar la ecografía selectiva en la semana 21 de gestación muestra oligoamnios y cardiopatía congénita. El estudio citogenético yla hibridación in situ fluorescente (HISF) (fluorescent in situ hybridization [FISH]) reveló la presencia de una deleción del brazo corto de cromosoma 4: 46,XX,del(4)(p14). Los padres optaron por interrumpir el embarazo y se realizó estudio necrósico al feto que mostró signos dismórficos craneofaciales típicos de SWH, así como malformaciones cardíacas. El diagnóstico prenatal del SWH se realiza habitualmente en fetos en los que se realiza cariotipo por indicaciones de rutinapara análisis cromosómico o por retraso de crecimiento intrauterino con o sin otras anomalías asociadas. Nosotros relacionamos nuestros hallazgos ecográficos: defectos de la línea media (defectos cardíacos septales) y oligoamnios como signos orientativos para el diagnóstico prenatal del SWH
Wolf-Hirschhorn syndrome (WHS) is a well-knowchromosomal disorder attributable to partial deletion ofthe short arm of chromosome 4 (4p). We found ample variations in both the size of the deletions and the position of the respective breakpoints. Search of minimun ecographic criteria will make possible a diagnostic guide of such syndrome in prenatal studies. We report a case in which oligoamnios and congenital heart defects were detected by prenatal ultrasound examination at 21 weeks of gestation. Cytogenetic and FISH analysis of the cultured amniocytes revealed a 46,XX,del(4p14) karyotype. The parents opted to terminate the pregnancy. Fetopathological examinationshowed typical craneofacial dysmorphic signs of WHS andsevere congenital heart defects. Prenatal diagnosis of WHS has only been occasionally reported in fetuses karyotyped because of routine indications of chromosomal analysis or intrauterine growth restriction with or without associated anomalies. The associated sonographic signs of midline fusion defects (cardiac septal defects) and oligoamnios, may help to refine specific cytogenetic analysis taking into consideration 4p syndrome
Wolf-Hirschhorn syndrome (WHS) is a well-knowchromosomal disorder attributable to partial deletion ofthe short arm of chromosome 4 (4p). We found ample variations in both the size of the deletions and the position of the respective breakpoints. Search of minimun ecographic criteria will make possible a diagnostic guide of such syndrome in prenatal studies. We report a case in which oligoamnios and congenital heart defects were detected by prenatal ultrasound examination at 21 weeks of gestation. Cytogenetic and FISH analysis of the cultured amniocytes revealed a 46,XX,del(4p14) karyotype. The parents opted to terminate the pregnancy. Fetopathological examinationshowed typical craneofacial dysmorphic signs of WHS andsevere congenital heart defects. Prenatal diagnosis of WHS has only been occasionally reported in fetuses karyotyped because of routine indications of chromosomal analysis or intrauterine growth restriction with or without associated anomalies. The associated sonographic signs of midline fusion defects (cardiac septal defects) and oligoamnios, may help to refine specific cytogenetic analysis taking into consideration 4p syndrome
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Colección:
06-national
/
ES
Base de datos:
IBECS
Asunto principal:
Deleción Cromosómica
/
Cardiopatías Congénitas
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
Es
Revista:
Prog. diagn. trat. prenat. (Ed. impr.)
Año:
2007
Tipo del documento:
Article