RESUMEN

Chorionic villus samples from a healthy pregnant female were obtained for first-trimester prenatal diagnosis. A translocation trisomy 21 was diagnosed. A consecutive amniocentesis revealed a normal male karyotype. At term a healthy boy was born. Cytogenetic analysis from cord blood showed a regular karyotype of 46,XY, whereas in term placenta a pathological karyotype of 47,XY, +mar was found.

Asunto(s)

Síndrome de Down/diagnóstico , Diagnóstico Prenatal , Translocación Genética , Adulto , Amnios/citología , Muestra de la Vellosidad Coriónica , Bandeo Cromosómico , Técnicas de Cultivo , Síndrome de Down/genética , Reacciones Falso Positivas , Femenino , Sangre Fetal/citología , Humanos , Cariotipificación , Linfocitos/ultraestructura , Placenta/ultraestructura , Embarazo , Primer Trimestre del Embarazo