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Prader–Willi Syndrome with Angelman Syndrome in the Offspring

Authors :
Angela Antonia Costanzo
Serafino Buono
Paola Occhipinti
Corrado Romano
Angelo Gloria
Michele Roccella
Luigi Vetri
Donatella Greco
Giuseppe Quatrosi
Letizia Ragusa
Mirella Vinci
Greco D.
Vetri L.
Ragusa L.
Vinci M.
Gloria A.
Occhipinti P.
Costanzo A.A.
Quatrosi G.
Roccella M.
Buono S.
Romano C.
Source :
Medicina, Vol 57, Iss 460, p 460 (2021), Medicina
Publication Year :
2021
Publisher :
MDPI AG, 2021.

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.

Details

ISSN :
16489144
Volume :
57
Database :
OpenAIRE
Journal :
Medicina
Accession number :
edsair.doi.dedup.....06958e36a2f30edf3647f382230f70f6
Full Text :
https://doi.org/10.3390/medicina57050460