RESUMEN
INTRODUCTION: 45,X/46,XY mosaicism is an uncommon chromosomal anomaly with a range of phenotypes from normal males to cases of multiple congenital anomalies. MATERIALS AND METHODS: We report a case with associated cleft lip and epispadias prenatally diagnosed with autopsy evidences. CONCLUSION: Our case, with an uncommon association of congenital anomalies, stresses the difficulty of prenatal counselling regarding 45,X/46,XY mosaicism and discuss the possible role of sex chromosome genes that may be involved in the pathogenesis of both types of midline defect.
Asunto(s)
Anomalías Múltiples , Enfermedades Fetales/genética , Mosaicismo , Labio Leporino/diagnóstico por imagen , Epispadias , Enfermedades Fetales/diagnóstico por imagen , Humanos , Masculino , Ultrasonografía PrenatalAsunto(s)
Anomalías Múltiples/patología , Discapacidad Intelectual/patología , Polidactilia/diagnóstico por imagen , Pulgar/anomalías , Anomalías Múltiples/genética , Niño , Deleción Cromosómica , Cromosomas Humanos Par 17/genética , Hibridación Genómica Comparativa , Humanos , Hibridación Fluorescente in Situ , Discapacidad Intelectual/genética , Italia , Masculino , Oligonucleótidos/genética , Radiografía , Pulgar/diagnóstico por imagenRESUMEN
Severe anomalies of the forebrain together with reduction limb anomalies are a rare congenital anomalies association. We report a prenatal diagnosis of acalvaria, anencephaly and thumb agenesis in a voluntary terminated fetus and discuss the role of genetic counseling.
Asunto(s)
Anencefalia/diagnóstico , Defectos del Tubo Neural/diagnóstico , Diagnóstico Prenatal/métodos , Pulgar/anomalías , Encéfalo/anomalías , Femenino , Asesoramiento Genético , Humanos , Embarazo , Prosencéfalo/embriologíaRESUMEN
Our study does not support the reported association between APOE and recurrent pregnancy loss (RPL) than the clinical management of these patients should not be influenced by the presence or not of APO E polymorphisms.
Asunto(s)
Aborto Habitual/genética , Apolipoproteína E3/genética , Apolipoproteína E4/genética , Polimorfismo Genético , Estudios de Casos y Controles , Femenino , Predisposición Genética a la Enfermedad , Humanos , Fenotipo , Embarazo , Medición de Riesgo , Factores de RiesgoRESUMEN
Craniorachischisis is a rare neural tube defect in which both acrania and a complete schisis of the vertebral column are present. Heterotaxy results from failure to establish normal left-right asymmetry during embryonic development and is characterized by a variable group of congenital anomalies that include complex cardiac malformations and situs inversus or situs ambiguous. We report a diamniotic twin pregnancy with two malformed fetuses affected one by craniorachischisis and the other by heterotaxya with paired right-sided viscera, asplenia, and complex congenital heart disease. The occurrence of severe congenital anomalies in both members of the twin pair implies a strong influence of genetic factors. At present, the genetic basis determining the different phenotypes observed in our twins is unknown. Our case with the simultaneous presence of both midline and laterality defects in twins supports the hypothesis that the midline plays a critical role in establishing left-right asymmetry in the body and that a mutation in a gene responsible for both heterotaxy and midline defects may be strongly supposed.