Figure 2 | European Journal of Human Genetics

Figure 2

From: EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

Figure 2Figure 2

Diagnostic algorithm for SRS (a) and BWS (b). For both disorders, methylation-specific tests for both imprinted regions in 11p15.5, and in case of SRS for the DMRs on chromosome 7 are recommended. The lab has to be aware of the possible outcomes and their interpretation. In case of a positive testing result, the subsequent discrimination is mandatory and has at least to be suggested in the report. Ditto, the further proceeding after a negative result has to be advised by the reporting geneticists.

Back to article page