唐氏综合症女性的婚姻和生育

L.M. Azevedo Moreira, L. Damasceno Espirito Santo
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引用次数: 1

摘要

患有唐氏综合症(DS)或其他与智力残疾有关的疾病的人的性生活仍然是一个禁忌,在文献中很少有报道。因果关系和疾病分类学方面的知识进步,包括其社会成就,已导致针对这些人的包容性运动得到加强。本文介绍了一个不寻常的案例,成功的婚姻和生育的妇女与DS。申请人在特殊学校学习,口头沟通良好。她在13岁时出现月经初潮,在照顾自己的身体方面表现出自主。八年前,她在自己就读的一所特殊学校遇到了现在的丈夫。结婚两年后,先证者怀上了一个没有这种综合症的男孩。她能够照顾她的孩子的需要,与她自己的母亲分担这一责任,她的母亲主要负责教育她走向自主。先证者核型显示21三体伴染色体镶嵌。新的社会成就正在出现,其中包括建立持久的情感关系。遗传咨询应考虑退行性椎体滑移的生殖机会和复发风险。这些特殊的父母和他们的家庭共同承担着培育和抚养这些婚姻中出生的孩子的新责任。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Matrimonio y reproducción en una mujer con síndrome de Down

Sex life of people with Down syndrome (DS) or other conditions associated with intellectual disability is still a taboo, with few reports in the literature. Advances in knowledge of causal and nosological aspects, including its social achievements, have led to the strengthening of the inclusive movement aimed at those people. This paper presents an unusual case of successful marriage and reproduction of a woman with DS. The propositus studied in special schools and communicates well verbally. She presented menarche at age of 13, showing autonomy in caring for her body. Eight years ago she met her current husband at the special school she attended. Two years after the wedding, the proband became pregnant of a male child without the syndrome. She is able to take care of her child needs, sharing this responsibility with her own mother, who was primarily responsible for her education directed towards autonomy. The proband's karyotype revealed trisomy 21 with chromosomal mosaicism. New social achievements are occurring, among them the establishment of lasting emotional relationships. The reproductive chances and risks of recurrence of DS should be considered in genetic counseling. The breeding and rearing of any children born from these marriages become new responsibilities shared by these special parents and their families.

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