ABSTRACT

Prader-Willi (PWS) and Angelman syndromes (AS) are genomic imprinting diseases with intellectual disability. In approximately 70 % of the cases, there is a cytogenetic deletion involving the chromosome 15q11-q13 inherited from patient’s father (in PWS) and from patient’s mother (in AS). In approximately 20-25% and 3-7% of the cases, there is an uniparental disomy (UPD) of chromosome 15 in PWS and AS patients, respectively. The mutation ratio in AS patients is approximately 10 %, while the ratio is two percent in PWS patients.

In the first step cytogenetic analyses were performed by using high resolution banding (HRB) for 20 patients who were selected by diagnostic criteria (11 pre-diagnosed with AS and 9 pre-diagnosed with PWS). Then, via Fluorescent in situ Hybridization (FISH) technique, SNRPN gene (small nuclear ribonucleoprotein polypeptide N gene) locus for PWS, D15S10 locus for AS were searched. Finally the uniparental disomy of chromosome 15 along with the mutation/deletion of imprinting center were examined.

HRB and FISH analyses revealed no deletion except in one AS patient whose D15S10 region was found deleted via FISH technique. Mutation/deletion of imprinting center analyses in all of them were evaluated as normal.

As a result, by this project patients with PWS and AS, who were selected by the diagnostic criteria for each syndrome, were evaluated via conventional genetic and molecular genetics methods and they were offered with the efficient genetic counseling.