Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring

We report on a 32-y-old woman with Prader-Willi syndrome (PWS) and her daug hter with Angelman syndrome (AS). PWS in the mother was confirmed as due to a deletion of 15q11-q13, and molecular analysis in the neonate indicated a n inherited maternal deletion of the same region. Features of AS in early i nfancy, such as jerky movements, feeding problems and poor sleep, were obse rved. At 5 mo of age, a triphasic high voltage EEG pattern was reported. Conclusions: This case confirms the non-Mendelian inheritance of PWS and AS and, in addition to previous reports, provides evidence of fertility in PW S women. We recommend the provision of information regarding fertility in f emales with PWS to parents, guardians and individuals with PWS, and frequen t EEG monitoring for early AS diagnosis. Given the different genetic aetiol ogies for PWS and AS, cytogenetic and molecular genetic analysis is strongl y indicated for counselling and risk estimation.