Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Greco, Donatella, Vetri, Luigi, Ragusa, Letizia, Vinci, Mirella, Gloria, Angelo, Occhipinti, Paola, Costanzo, Angela Antonia, Quatrosi, Giuseppe, Roccella, Michele, Buono, Serafino, Romano, Corrado
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
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
_version_ 1783698233976946688
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
work_keys_str_mv AT grecodonatella praderwillisyndromewithangelmansyndromeintheoffspring
AT vetriluigi praderwillisyndromewithangelmansyndromeintheoffspring
AT ragusaletizia praderwillisyndromewithangelmansyndromeintheoffspring
AT vincimirella praderwillisyndromewithangelmansyndromeintheoffspring
AT gloriaangelo praderwillisyndromewithangelmansyndromeintheoffspring
AT occhipintipaola praderwillisyndromewithangelmansyndromeintheoffspring
AT costanzoangelaantonia praderwillisyndromewithangelmansyndromeintheoffspring
AT quatrosigiuseppe praderwillisyndromewithangelmansyndromeintheoffspring
AT roccellamichele praderwillisyndromewithangelmansyndromeintheoffspring
AT buonoserafino praderwillisyndromewithangelmansyndromeintheoffspring
AT romanocorrado praderwillisyndromewithangelmansyndromeintheoffspring