TY -的AU -李,健桥AU - Hojlo,玛格丽特•AU - Chennuri位于非盟- Gujral Nitin AU -帕特森,希瑟·L AU - Shefchek,肯特盟——Genetti Casie AU -科恩,艾米丽•L AU - Sewalk卡拉C AU -加维,艾米丽盟——Buttermore,伊丽莎白·D AU -安德森Nickesha C AU -贝格斯说,艾伦·H AU - Agrawal Pankaj B非盟-布朗斯坦,约翰·S AU - Haendel梅丽莎盟——河中沙洲,英格丽德盟——Gonzalez-Heydrich,约瑟夫•AU -布朗斯坦用在线自我表型工具(Phenotypr)评估16p13.11微重复综合征的表型变异性的代表性不足:队列研究JO - J Med Internet Res SP - e21023 VL - 23is - 3kw -自我表型KW - 16p13.11微重复综合征KW -拷贝数变异KW -遗传学KW -不完全外显率KW -表型KW -可变呈现KW -人类表型本体KW -在线调查KW -数字健康AB -背景:16p13.11微重复综合征具有可变的表现，其主要特征是由染色体16p13.11拷贝数变异引起的神经发育和物理表型。鉴于其可变性，可能存在尚未报道的特征。本研究的目的是通过患者“自我表型”调查，直接收集患者的数据，进一步表征16p13.11微重复综合征的表型。目的:本研究旨在(1)发现科学文献中未被充分代表的16p13.11微重复综合征的自我识别表型;(2)证明自我表型工具是医学和科学界有价值的数据来源。方法:作为比较和评估患者自我表型调查的大型研究的一部分，为罕见疾病患者开发了一种在线调查工具Phenotypr，用于自我报告表型。患有16p13.11微复制综合征的参与者是通过波士顿儿童医院16p13.11注册中心招募的。受影响儿童或受影响人士(如年满18岁或以上)的照顾者、父母或法定监护人完成调查。 Results were securely transferred to a Research Electronic Data Capture database and aggregated for analysis. Results: A total of 19 participants enrolled in the study. Notably, among the 19 participants, aggression and anxiety were mentioned by 3 (16%) and 4 (21%) participants, respectively, which is an increase over the numbers in previously published literature. Additionally, among the 19 participants, 3 (16%) had asthma and 2 (11%) had other immunological disorders, both of which have not been previously described in the syndrome. Conclusions: Several phenotypes might be underrepresented in the previous 16p13.11 microduplication literature, and new possible phenotypes have been identified. Whenever possible, patients should continue to be referenced as a source of complete phenotyping data on their condition. Self-phenotyping may lead to a better understanding of the prevalence of phenotypes in genetic disorders and may identify previously unreported phenotypes. SN - 1438-8871 UR - //www.mybigtv.com/2021/3/e21023 UR - https://doi.org/10.2196/21023 UR - http://www.ncbi.nlm.nih.gov/pubmed/33724192 DO - 10.2196/21023 ID - info:doi/10.2196/21023 ER -