Prader–Willi syndrome with angelman syndrome in the offspring
- Autori: Greco D.; Vetri L.; Ragusa L.; Vinci M.; Gloria A.; Occhipinti P.; Costanzo A.A.; Quatrosi G.; Roccella M.; Buono S.; Romano C.
- Anno di pubblicazione: 2021
- Tipologia: Articolo in rivista
- OA Link: http://hdl.handle.net/10447/515889
Abstract
We report the second case, to the best of our knowledge, of a mother with Prader–Willi syndrome (PWS) who gave birth to a daughter with Angelman syndrome (AS). The menarche occurred when she was 16, and the following menstrual cycles were irregular, but she never took sexual hormone replacement therapy. At the age of 26, our patient with PWS became pregnant. The diagnosis was confirmed by molecular genetic testing that revealed a ~5.7 Mb deletion in the 15q11.1– 15q13 region on the paternal allele in the mother with PWS and the maternal one in the daughter with AS, respectively. Both the mother with PWS and the daughter with AS showed peculiar clinical and genetic features of the two syndromes. Our case report reaffirms the possible fertility in PWS; therefore, it is very important to develop appropriate socio-sexual education programs and fertility assessments in order to guarantee the expression of a healthy sexuality.