1. MRC-Holland b.v. Microdeletion in IC Copy no. Results 50% Microdeletion deleting exons 1-4 SNRPN Methylation Results 1

2. MRC-Holland b.v. Copy no. ratio  1.5 Dup confirmed by cyto Mat dup 15q11-13 associated with DD, autism, speech problems Duplications are also detectable Methylation ratio  0.66 (mat?)

3. MRC-Holland b.v. Advantages of MS-MLPA Can detect duplications of Chrom 15q11-13 May be able to detect microdeletions, without need for parental samples Can distinguish  cases from IC/ UPD  provide info on RR in majority of cases  need for downstream tests PCR-based assay: Small amount DNA required (20ng) Technically simple. Fast generation of results Shorter report times:  40 days to 3 days Prenatals

4. MRC-Holland b.v. Conclusion MS-MLPA is a simple fast robust highly informative method for detecting PWS/ AS

5. MRC-Holland b.v.