Genetics of personalized medicine: cancer and rare diseases.

The 21st annual meeting of the Portuguese Society of Human Genetics (SPGH), organized by Luísa Romão, Ana Sousa and Rosário Pinto Leite, was held in Caparica, Portugal, from the 16th to the 18th of November 2017. Having entered an era in which personalized medicine is emerging as a paradigm for disease diagnosis, treatment and prevention, the program of this meeting intended to include lectures by leading national and international scientists presenting exceptional findings on the genetics of personalized medicine. Various topics were discussed, including cancer genetics, transcriptome dynamics and novel therapeutics for cancers and rare disorders that are designed to specifically target molecular alterations in individual patients. Several panel discussions were held to emphasize (ethical) issues associated with personalized medicine, including genetic cancer counseling.

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. The analyses were performed due to the advanced maternal age. In both cases, parent's karyotypes were normal. The identification of the marker chromosomes was possible by FISH techniques. RESULTS: One marker chromosome was derived from chromosome 5 and the other from chromosome 6. Both children are well at the moment. CONCLUSION: The two cases described in the present paper, join to the ones already described in the literature. However these results are the first ones without any phenotypical anomalies, at least until the present. Every new characterization of marker chromosomes at prenatal diagnosis should be reported for determining a genotype-phenotype correlation, and thus be used for genetic counselling and risk evaluation.