• 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

神经管缺陷的发生与遗传咨询

[Development of neural tube defects and genetic counseling].

作者信息

Canki N

出版信息

Jugosl Ginekol Opstet. 1984 May-Aug;24(3-4):45-8.

PMID:6503334
Abstract

The analysis of thirty-seven cases of neural tube defects (NTD) resulted in the following conclusions: a) At least eleven cases had the Arnold-Chiari malformation, an autosomal recessive disorder which often remains unrecognized; b) Trisomy 18 and amniotic disease associated with NTD were diagnosed in two newborns; c) In eight cases there was one or more older children with NTD; d) In two families the parents were related. A review of the literature and the exposed data indicate a heterogeneous etiology and an important role of genetic factors in the genesis of NTD.

摘要

对37例神经管缺陷(NTD)病例的分析得出以下结论:a)至少11例患有阿诺德 - 基亚里畸形,这是一种常未被识别的常染色体隐性疾病;b)两名新生儿被诊断出18三体综合征和与NTD相关的羊水疾病;c)8例中有一个或多个患有NTD的大龄儿童;d)两个家庭的父母有亲属关系。对文献和所呈现数据的回顾表明,NTD发生的病因具有异质性,且遗传因素起重要作用。

相似文献

1
[Development of neural tube defects and genetic counseling].神经管缺陷的发生与遗传咨询
Jugosl Ginekol Opstet. 1984 May-Aug;24(3-4):45-8.
2
Etiology, pathogenesis and prevention of neural tube defects.神经管缺陷的病因、发病机制及预防
Congenit Anom (Kyoto). 2006 Jun;46(2):55-67. doi: 10.1111/j.1741-4520.2006.00104.x.
3
[Genetic counseling and prenatal diagnosis in families with neural tube defects].[神经管缺陷家庭的遗传咨询与产前诊断]
Probl Med Wieku Rozwoj. 1983;12:244-62.
4
Impact of genetic counseling and prenatal diagnosis for Down syndrome and neural tube defects.唐氏综合征和神经管缺陷的遗传咨询与产前诊断的影响。
Birth Defects Orig Artic Ser. 1987;23(2):61-83.
5
Genetic counseling in families at increased risk for neural tube defects.神经管缺陷高风险家庭的遗传咨询。
Ala J Med Sci. 1985 Jul;22(3):301-4.
6
Empiric recurrence risk for neural tube defects (NTD) in Krakow region.克拉科夫地区神经管缺陷(NTD)的经验性复发风险。
Acta Anthropogenet. 1983;7(4):367-72.
7
Use of genetic counselling services for neural tube defects.
Am J Med Genet. 1987 Apr;26(4):811-8. doi: 10.1002/ajmg.1320260407.
8
[Results of genetic counseling in the prevention of neural tube defects in the Western Bohemian Region from 1975-1979].[1975 - 1979年西波希米亚地区预防神经管缺陷的遗传咨询结果]
Cesk Pediatr. 1981 Jun;36(6):341-4.
9
A search for environmental and genetic background for neural tube defects: twenty-five years of experience.
Cent Eur J Public Health. 1997 Jun;5(2):86-9.
10
Neural tube defects, chromosome abnormalities and multiple closure sites for the human neural tube.神经管缺陷、染色体异常与人类神经管的多个闭合位点
Clin Dysmorphol. 1995 Jul;4(3):202-7.

引用本文的文献

1
Association of Chiari malformation and vitamin B12 deficit in a family.一个家族中Chiari畸形与维生素B12缺乏的关联
Childs Nerv Syst. 2013 Jul;29(7):1193-8. doi: 10.1007/s00381-013-2056-1. Epub 2013 Mar 7.