Prader-Willi Syndrome with Angelman Syndrome in the Offspring

被引：5

作者：

Greco, Donatella ^{[1
]}

Vetri, Luigi ^{[1
]}

Ragusa, Letizia ^{[1
]}

Vinci, Mirella ^{[1
]}

Gloria, Angelo ^{[1
]}

Occhipinti, Paola ^{[1
]}

Costanzo, Angela Antonia ^{[1
]}

Quatrosi, Giuseppe ^{[2
]}

Roccella, Michele ^{[3
]}

Buono, Serafino ^{[1
]}

Romano, Corrado ^{[1
]}

机构：

[1] Oasi Res Inst IRCCS, I-94018 Troina, Italy

[2] Univ Palermo, Dept Sci Hlth Promot & Mother & Child Care G DAle, I-90128 Palermo, Italy

[3] Univ Palermo, Dept Psychol Educ Sci & Human Movement, I-90128 Palermo, Italy

来源：

MEDICINA-LITHUANIA | 2021年 / 57卷 / 05期

关键词：

Angelman syndrome; fertility; offspring; Prader-Willi syndrome; HYPOGONADISM; SEXUALITY; INFANCY; WOMEN; WOMAN;

D O I：

10.3390/medicina57050460

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 similar to 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.

引用

页数：7

共 32 条

[1] A woman with Prader-Willi syndrome gives birth to a healthy baby girl [J].