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Prader–Willi Syndrome with Angelman Syndrome in the Offspring
- 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.
- Subjects :
- Medicine (General)
congenital, hereditary, and neonatal diseases and abnormalities
Pediatrics
medicine.medical_specialty
Prader–Willi syndrome
Offspring
media_common.quotation_subject
Case Report
030209 endocrinology & metabolism
Fertility
Human sexuality
03 medical and health sciences
R5-920
0302 clinical medicine
Pregnancy
Angelman syndrome
Humans
Medicine
Allele
media_common
fertility
Daughter
030219 obstetrics & reproductive medicine
offspring
business.industry
nutritional and metabolic diseases
General Medicine
medicine.disease
Settore MED/39 - Neuropsichiatria Infantile
nervous system diseases
Transgender hormone therapy
Menarche
Female
Angelman syndrome, Fertility, Offspring, Prader–Willi syndrome, Female, Fertility, Humans, Pregnancy, Angelman Syndrome, Prader-Willi Syndrome
business
Prader-Willi Syndrome
Subjects
Details
- ISSN :
- 16489144
- Volume :
- 57
- Database :
- OpenAIRE
- Journal :
- Medicina
- Accession number :
- edsair.doi.dedup.....06958e36a2f30edf3647f382230f70f6
- Full Text :
- https://doi.org/10.3390/medicina57050460