RESUMO
A fetal patient presented at 27.3 weeks of gestation with polyhydramnion. Ultrasound examination showed enlarged cerebral ventricles, abnormal position of the fingers and abnormal external genitals. Chromosome studies in chorionic villus material were normal male: in cultured amniocytes a distal deletion 14q32 was demonstrated and confirmed by FISH analysis. The baby was born at 37 weeks and died spontaneously during labour. This is the first report of prenatal diagnosis of a terminal 14q deletion.
Assuntos
Anormalidades Múltiplas/genética , Deleção Cromossômica , Cromossomos Humanos Par 14 , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/diagnóstico por imagem , Análise Citogenética , Morte Fetal , Humanos , Hibridização in Situ Fluorescente , Recém-Nascido , Masculino , Diagnóstico Pré-Natal , UltrassonografiaRESUMO
The benign abdominal multicystic mesothelioma is a rare disease. Usually a malignancy of the ovary is suspected prior to and during surgery. The histological diagnosis and the clinical course however are benign. Three cases are reported. Diagnosis, treatment and follow up are discussed.
