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We describe a female with a 72 CGG FMR1 premutation (PM) (CGG 55–199) and family history of fragile X syndrome (FXS), referred for prenatal testing. The proband had a high risk of having an affected pregnancy with a full mutation allele (FM) (CGG > 200), that causes FXS through hypermethylation of the FMR1 promoter. The CGG sizing analysis in this study used AmplideX triplet repeat primed polymerase chain reaction (TP-PCR) and long-range methylation sensitive PCR (mPCR). These methods detected a 73 CGG PM allele in the proband’s blood, and a 164 CGG PM allele in her male cultured chorionic villus sample (CVS). In contrast, the Southern blot analysis showed mosaicism for: (i) a PM (71 CGG) and an FM (285–768 CGG) in the proband’s blood, and (ii) a PM (165 CGG) and an FM (408–625 CGG) in the male CVS. The FMR1 methylation analysis, using an EpiTYPER system in the proband, showed levels in the range observed for mosaic Turner syndrome. This was confirmed by molecular and cytogenetic karyotyping, identifying 45,X0/46,XX/47,XXX lines. In conclusion, this case highlights the importance of Southern blot in pre- and postnatal testing for presence of an FM, which was not detected using AmplideX TP-PCR or mPCR in the proband and her CVS.

Projects to reduce emissions from deforestation and degradation (REDD) are designed to reduce carbon emissions through avoided deforestation and degradation, and in many cases, to produce additional community and biodiversity conservation co-benefits. While these co-benefits can be significant, quantifying conservation impacts has been challenging, and most projects use simple species presence to demonstrate positive biodiversity impact. Some of the same tools applied in the quantification of climate mitigation benefits have relevance and potential application to estimating co-benefits for biodiversity conservation. In western Tanzania, most chimpanzees live outside of national park boundaries, and thus face threats from human activity, including competition for suitable habitat. Through a case study of the Ntakata Mountains REDD project in western Tanzania, we demonstrate a combined application of deforestation modelling with species distribution models to assess forest conservation benefits in terms of avoided carbon emissions and improved chimpanzee habitat. The application of such tools is a novel approach that we argue permits the better design of future REDD projects for biodiversity co-benefits. This approach also enables project developers to produce the more manageable, accurate and cost-effective monitoring, reporting and verification of project impacts that are critical to verification under carbon standards.