唐氏综合征和脆性 X 综合征在一名哥伦比亚女性中的表现：病例报告。
Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report.
机构信息
Research Group in congenital & perinatal malformations and Dysmorphology (MACOS), University of Valle, Cali, Valle, Colombia.
Departments of Morphology and Obstetrics & Gynecology, University of Valle, Cali, Valle, Colombia.
出版信息
J Appl Res Intellect Disabil. 2017 Sep;30(5):970-974. doi: 10.1111/jar.12272. Epub 2016 Jul 26.
BACKGROUND
Down syndrome (DS) and Fragile X syndrome (FXS) are the major genetic causes of intellectual disabilities. Here, we present a case of a 32-year-old woman with the diagnosis of both FXS and DS. She is the daughter of a 47-year-old pre-mutation woman who also has three sons with FXS.
METHODS
Cytogenetic testing detected the presence of a complete trisomy 21. A combination of PCR and Southern blot analysis was utilized to document the presence of the FMR1 full mutation.
RESULTS
The patient has physical characteristics and behavioural disturbances typical of both FXS and DS, which were confirmed by molecular testing. Her treatment plan included a trial of sertraline because of the severity of her shyness and lack of language. She had an excellent response to sertraline with improvement in shyness and social interactions, particularly with family members.
CONCLUSIONS
In this study, we report the case of a woman with both FXS and DS, which is the fifth case of FXS and DS in the world's literature. The patient is from Ricaurte, a small town in Colombia, South America, where there is the world's highest prevalence for FXS.
背景
唐氏综合征（DS）和脆性 X 综合征（FXS）是智力障碍的主要遗传原因。在这里，我们介绍了一例同时患有 FXS 和 DS 的 32 岁女性。她是一位 47 岁前突变女性的女儿，该女性还有三个患有 FXS 的儿子。
方法
细胞遗传学检测发现存在完全三体 21。我们采用 PCR 和 Southern blot 分析相结合的方法来证明 FMR1 完全突变的存在。
结果
患者具有 FXS 和 DS 的典型身体特征和行为障碍，这通过分子检测得到了证实。她的治疗计划包括曲舍林治疗试验，因为她的害羞和语言缺乏非常严重。她对曲舍林反应良好，害羞和社交互动，特别是与家庭成员的互动都得到了改善。
结论
在这项研究中，我们报告了一例同时患有 FXS 和 DS 的女性，这是世界文献中第五例 FXS 和 DS 病例。该患者来自南美洲哥伦比亚的 Ricaurte，那里是世界上脆性 X 综合征发病率最高的地方。
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