• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

[Genetic analysis of a child with Sotos syndrome].

作者信息

Luo Yuqin, Sun Yixi, Qian Yeqing, Shen Min, Wang Liya, Jin Fan, Dong Minyue

机构信息

Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Feb 10;37(2):127-130. doi: 10.3760/cma.j.issn.1003-9406.2020.02.006.

DOI:10.3760/cma.j.issn.1003-9406.2020.02.006
PMID:32034736
Abstract

OBJECTIVE

To explore the genetic basis for a child with mentally retardation.

METHODS

G-banding karyotyping, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) were performed for the child. Karyotyping and FISH were also carried out for her parents.

RESULTS

SNP-array has detected a 5077 kb microdeletion at 5q35.2q35.3 and a 4964 kb microduplication at 7q36.2q36.3 in the child. The results were confirmed by FISH. Based on above results, the father was subsequently found to carry a cryptic t(5;7) (q35.2; q36.2) translocation. The child was verified to have inherited a der(5) t(5;7)(q35.2; q36.2) from her father.

CONCLUSION

The 5077 kb microdeletion at 5q35.2q35.3 may have predisposed to the Sotos syndrome in the child. SNP-array combined with G-banding karyotyping and FISH can help to detect cryptic chromosomal translocations among patients.

摘要

相似文献

1
[Genetic analysis of a child with Sotos syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Feb 10;37(2):127-130. doi: 10.3760/cma.j.issn.1003-9406.2020.02.006.
2
[Genetic analysis of a child with mental retardation and hypospadia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Dec 10;36(12):1199-1202. doi: 10.3760/cma.j.issn.1003-9406.2019.12.012.
3
[Genetic diagnosis of a fetus with Dandy-Walker syndrome].[丹迪-沃克综合征胎儿的基因诊断]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jan 10;37(1):8-11. doi: 10.3760/cma.j.issn.1003-9406.2020.01.003.
4
[Clinical features and genetic analysis of two cases with 16p13.3 microdeletion and 19q13.4 microduplication derived from familial cryptic balanced translocation].[两例源于家族性隐匿性平衡易位的16p13.3微缺失和19q13.4微重复的临床特征及基因分析]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Aug;33(4):490-3. doi: 10.3760/cma.j.issn.1003-9406.2016.04.013.
5
[Prenatal diagnosis of 1p36.3 microdeletion in a fetus with complex heart defect].[一名患有复杂心脏缺陷胎儿的 1p36.3 微缺失的产前诊断]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Jun;33(3):353-6. doi: 10.3760/cma.j.issn.1003-9406.2016.03.017.
6
Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2-q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome.5q35.2-q35.3 处 1.07Mb 微缺失导致 NSD1 杂合性缺失及 Sotos 综合征的产前诊断及分子细胞遗传学特征
Taiwan J Obstet Gynecol. 2014 Dec;53(4):583-7. doi: 10.1016/j.tjog.2014.10.002.
7
[Molecular genetic analysis of a child with de novo 16p11.2 microdeletion].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Nov 10;37(11):1283-1286. doi: 10.3760/cma.j.cn511374-20190805-00397.
8
[Prenatal genetic analysis of a fetus with Wolf-Hirschhorn syndrome and Edward syndrome].[患有沃尔夫-赫希霍恩综合征和爱德华兹综合征胎儿的产前基因分析]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Oct 10;34(5):714-717. doi: 10.3760/cma.j.issn.1003-9406.2017.05.021.
9
[Analysis of a girl with Phelan-McDermid syndrome].[一名患有费兰-麦克德米德综合征女孩的分析]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Feb 10;36(2):154-156. doi: 10.3760/cma.j.issn.1003-9406.2019.02.015.
10
[Xq;Yq translocation in a patient with premature ovarian insufficiency].[一名卵巢早衰患者的Xq;Yq易位]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Sep 10;37(9):942-945. doi: 10.3760/cma.j.cn511374-20191001-00505.

引用本文的文献

1
Sotos Syndrome With NSD1 Mutations in a Chinese Cohort: Identification of Two Novel Mutations and Literature Review.中国人群中伴有 NSD1 突变的索托斯综合征：两种新突变的鉴定及文献综述
Int J Dev Neurosci. 2025 Aug;85(5):e70032. doi: 10.1002/jdn.70032.