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Related Experiment Video

Updated: Nov 3, 2025

Author Spotlight: A Battery of Highly Reproducible Behavioral Tests to Validate an Angelman Syndrome Murine Model

Author Spotlight: A Battery of Highly Reproducible Behavioral Tests to Validate an Angelman Syndrome Murine Model

Published on: October 20, 2023

Prader-Willi Syndrome with Angelman Syndrome in the Offspring.

Donatella Greco¹, Luigi Vetri¹, Letizia Ragusa¹

¹Oasi Research Institute-IRCCS, 94018 Troina, Italy.

Medicina (Kaunas, Lithuania)

|June 2, 2021

Summary

This case report details a mother with Prader-Willi syndrome (PWS) who had a daughter with Angelman syndrome (AS). It highlights the importance of fertility assessment and sexual education for individuals with PWS.

Keywords:

Angelman syndrome Prader–Willi syndrome fertility offspring

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Area of Science:

Genetics
Reproductive Medicine

Background:

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are imprinting disorders affecting chromosome 15.
Fertility in women with PWS is often considered low, but cases of pregnancy have been reported.

Observation:

A 26-year-old woman with PWS experienced irregular menses but conceived without hormone therapy.
Her daughter was diagnosed with AS, while the mother carried a deletion in the 15q11.1-15q13 region on the paternal allele.

Findings:

Molecular genetic testing confirmed a ~5.7 Mb deletion in the 15q11.1-15q13 region in both mother and daughter, with differing parental origin.
This represents the second reported case of a mother with PWS giving birth to a child with AS.

Implications:

This case reaffirms the potential fertility in women with PWS.
Highlights the critical need for comprehensive socio-sexual education and fertility evaluations for individuals with PWS to support healthy sexual expression.