Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.

Pericentric inversions of chromosome 19 are very rare rearrangements. Only one case was shown to have resulted in duplication deficiency in the offspring. We report a familial case of pericentric inversion of chromosome 19 not detectable by standard karyotype and usual subtelomeric FISH probes.

Simultaneous identification of the four human Plasmodium species and quantification of Plasmodium DNA load in human blood by real-time polymerase chain reaction.

The incidence of imported malaria cases in travellers returning from endemic areas has considerably increased over the last few years. The microscopical examination of stained blood films is the gold standard method to confirm clinical suspicion of malaria but diagnosis is difficult in the case of mixed infections, low-grade parasitaemia, or forms altered by uncompleted treatment. We have developed a real-time polymerase chain reaction (PCR) for the simultaneous identification of the 4 human Plasmodium spp.