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Prader–Willi Syndrome with Angelman Syndrome in the Offspring
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 ther...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8150800/ https://www.ncbi.nlm.nih.gov/pubmed/34066798 http://dx.doi.org/10.3390/medicina57050460 |
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author | Greco, Donatella Vetri, Luigi Ragusa, Letizia Vinci, Mirella Gloria, Angelo Occhipinti, Paola Costanzo, Angela Antonia Quatrosi, Giuseppe Roccella, Michele Buono, Serafino Romano, Corrado |
author_facet | Greco, Donatella Vetri, Luigi Ragusa, Letizia Vinci, Mirella Gloria, Angelo Occhipinti, Paola Costanzo, Angela Antonia Quatrosi, Giuseppe Roccella, Michele Buono, Serafino Romano, Corrado |
author_sort | Greco, Donatella |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8150800 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-81508002021-05-27 Prader–Willi Syndrome with Angelman Syndrome in the Offspring Greco, Donatella Vetri, Luigi Ragusa, Letizia Vinci, Mirella Gloria, Angelo Occhipinti, Paola Costanzo, Angela Antonia Quatrosi, Giuseppe Roccella, Michele Buono, Serafino Romano, Corrado Medicina (Kaunas) Case Report 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. MDPI 2021-05-08 /pmc/articles/PMC8150800/ /pubmed/34066798 http://dx.doi.org/10.3390/medicina57050460 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Greco, Donatella Vetri, Luigi Ragusa, Letizia Vinci, Mirella Gloria, Angelo Occhipinti, Paola Costanzo, Angela Antonia Quatrosi, Giuseppe Roccella, Michele Buono, Serafino Romano, Corrado Prader–Willi Syndrome with Angelman Syndrome in the Offspring |
title | Prader–Willi Syndrome with Angelman Syndrome in the Offspring |
title_full | Prader–Willi Syndrome with Angelman Syndrome in the Offspring |
title_fullStr | Prader–Willi Syndrome with Angelman Syndrome in the Offspring |
title_full_unstemmed | Prader–Willi Syndrome with Angelman Syndrome in the Offspring |
title_short | Prader–Willi Syndrome with Angelman Syndrome in the Offspring |
title_sort | prader–willi syndrome with angelman syndrome in the offspring |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8150800/ https://www.ncbi.nlm.nih.gov/pubmed/34066798 http://dx.doi.org/10.3390/medicina57050460 |
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