RESUMEN

We report a de novo trisom 6q22.2-->6qter and monosomy 1pter-->1p36.3 identified in amniocytes by GTG banding and FISH. While ultrasonography demonstrated malformations that did not suggest a specific chromosomal syndrome, a male infant with features consistent with trisomy 6q was born. He was followed up until 23 months, when he died after cardiac surgery. The only two other prenatal cases of trisomy 6q were compared with our patient. A literature review showed that trisomy 6q has not been reported in association with the anomalies seen by ultrasound in this case.

Asunto(s)

Cromosomas Humanos Par 1 , Cromosomas Humanos Par 6 , Monosomía , Diagnóstico Prenatal , Trisomía , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/genética , Amniocentesis , Femenino , Estudios de Seguimiento , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/cirugía , Humanos , Hipertelorismo , Lactante , Recién Nacido , Articulaciones/patología , Masculino , Embarazo , Testículo/anomalías , Ultrasonografía