Familiar del3p syndrome: The uncertainty of the prognosis. A case report.

The 3p deletion syndrome is an unusual condition. The few cases described are mainly de novo. We described a familial case detected in a prenatal diagnosis.

Identification, characterization and clinical implications of two markers detected at prenatal diagnosis.

Objectives: Marker chromosomes are relatively rare in the general population as its identification at prenatal diagnosis. In this article, we identified and characterized two de novo supernumerary marker chromosomes in a mosaic form at prenatal diagnosis.

Methods: The two cases presented were detected during prenatal diagnosis at 17 and 15 weeks of gestation.

Chromosome instability and progression in urothelial cell carcinoma of the bladder.

Superficial urothelial cell carcinoma (UCC) is a heterogeneous group of neoplasia with an unpredictable clinical course. Numerical alterations of chromosomes 7, 9 and 17 in superficial and invasive UCCs were analysed to evaluate the importance of chromosome instability in the progression of these tumours. Our sample consisted of 75 patients (47 with superficial and 28 with invasive bladder tumours).