儿童22号染色体多余衍生综合征1例

R. V. Olennikova, O. I. Rytenkova, A. Volkov
{"title":"儿童22号染色体多余衍生综合征1例","authors":"R. V. Olennikova, O. I. Rytenkova, A. Volkov","doi":"10.23946/2500-0764-2023-8-2-141-146","DOIUrl":null,"url":null,"abstract":"Here we describe a rare case of an abnormal karyotype with a supernumerary derivative chromosome der(22)t(11;22), associated with Emanuel syndrome, in a boy aged 1 year. Familial cytogenetic analysis revealed the maternal origin of the anomaly from reciprocal translocation t(11;22) (q23;q11.2). At the time of the examination, the child had numerous anomalies of development, facial dysmorphia, and a small size of the external genitalia. In addition, there was a pronounced delay in psychomotor development because of the brain damage. We made an attempt to perform a comprehensive analysis of the risks to the patient's health by generalizing the cases of Emanuel syndrome described in the literature.","PeriodicalId":12493,"journal":{"name":"Fundamental and Clinical Medicine","volume":"6 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A case of supernumerary derivative chromosome 22 syndrome in a child\",\"authors\":\"R. V. Olennikova, O. I. Rytenkova, A. Volkov\",\"doi\":\"10.23946/2500-0764-2023-8-2-141-146\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Here we describe a rare case of an abnormal karyotype with a supernumerary derivative chromosome der(22)t(11;22), associated with Emanuel syndrome, in a boy aged 1 year. Familial cytogenetic analysis revealed the maternal origin of the anomaly from reciprocal translocation t(11;22) (q23;q11.2). At the time of the examination, the child had numerous anomalies of development, facial dysmorphia, and a small size of the external genitalia. In addition, there was a pronounced delay in psychomotor development because of the brain damage. We made an attempt to perform a comprehensive analysis of the risks to the patient's health by generalizing the cases of Emanuel syndrome described in the literature.\",\"PeriodicalId\":12493,\"journal\":{\"name\":\"Fundamental and Clinical Medicine\",\"volume\":\"6 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-06-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Fundamental and Clinical Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.23946/2500-0764-2023-8-2-141-146\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Fundamental and Clinical Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.23946/2500-0764-2023-8-2-141-146","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

在这里,我们描述了一个罕见的异常核型与多余的衍生染色体der(22)t(11;22),与伊曼纽尔综合征,在1岁的男孩。家族细胞遗传学分析显示,该异常来自母体易位t(11;22) (q23;q11.2)。在检查时,孩子有许多发育异常,面部畸形,外生殖器小。此外,由于脑损伤,精神运动发育明显延迟。我们试图通过概括文献中描述的伊曼纽尔综合征的病例,对患者健康的风险进行全面分析。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
A case of supernumerary derivative chromosome 22 syndrome in a child
Here we describe a rare case of an abnormal karyotype with a supernumerary derivative chromosome der(22)t(11;22), associated with Emanuel syndrome, in a boy aged 1 year. Familial cytogenetic analysis revealed the maternal origin of the anomaly from reciprocal translocation t(11;22) (q23;q11.2). At the time of the examination, the child had numerous anomalies of development, facial dysmorphia, and a small size of the external genitalia. In addition, there was a pronounced delay in psychomotor development because of the brain damage. We made an attempt to perform a comprehensive analysis of the risks to the patient's health by generalizing the cases of Emanuel syndrome described in the literature.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
Clinicopathological Features of Smoking Patients with Multivessel Coronary Artery Disease According to the Frailty Registry Pattern of Circulating Microrna's in Patients with Psoriatic Arthritis General Overview of Endometrial Microbiota Uterine Balloon Tamponade in Management of Postpartum Hemorrhage Assessment of Birth Weight Parameters in Sverdlovsk Region: Preliminary Results
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1