Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation.

Trisomy for the short arm of chromosome 18 or trisomy 18p, is rarely described. We report on a 13-year-old boy with minor facial anomalies, mental retardation, bilateral cryptorchidism associated with a de novo supernumerary marker chromosome (SMC). Using fluorescence in situ hybridization and comparative genomic hybridization analyses, this SMC corresponded to the p arm of chromosome 18 associated with a centromere of either chromosome 13 or 21 and nucleolus organizing regions (NORs). We report here the first case of a pure and complete trisomy 18p due to a SMC. This report and review of literature confirm that the main phenotypic anomaly associated with trisomy 18p is moderate mental retardation.

[Cyclospora cayetanensis presence in aquatic surroundings in Hanoi (Vietnam). Environmental study (well water, lakes and rivers)]. / Cyclospora cayetanensis et sa présence en milieu hydrique à Hanoï (Vietnam). Etude dans l'environnement (eaux de forage, lacs et rivières).

Cyclospora cayetanensis is a pathogenic agent originating from the intertropical zone. It causes diarrhoeal diseases in local populations as well as in travellers visiting these zones. In the first part of this work, an epidemiological study on drinking water supply (reservoirs and consumers' taps) was conducted in Hanoi over 12 months; samples were daily collected and have revealed the presence of Cyclospora cayetanensis oocysts during the whole year in tanks and only during monsoon season. Molecular methods were used for species identification. In the second part, we tried to investigate different water sources in Hanoi city in order to detect Cyclospora cayetanensis environmental contamination: groundwaters, surface waters collected in lakes and rivers and also waters from treatment plants. Our results show that none Cyclospora cayetanensis oocyst was found in the groundwaters and in the desinfected finished waters after treatment. In contrast, in rivers and lakes samples, the level of positivity reached about 63.6% with significant differences between the districts regarding the rates of oocysts recovery: only 24% positive specimens in Hoan Kiem district, whilst respectively 80.4%, 78.3% and 65% positive samples in Hai Ba Trung, Dong Da and Ba Dinh districts. The results of this study seem to confirm that environmental water is contaminated by Cyclospora cayetanensis oocysts and points out the importance of water as a significant source of human transmission. It is quite obvious that observation could be probably extended to the other endemic areas.