• 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

X linked mental retardation: a family with a separate syndrome?

作者信息

Thompson E M, Gordon A, Baraitser M

机构信息

Department of Clinical Genetics, Hospitals for Sick Children, London.

出版信息

J Med Genet. 1989 Jun;26(6):373-8. doi: 10.1136/jmg.26.6.373.

DOI:10.1136/jmg.26.6.373
PMID:2738899
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1015621/
Abstract

Four males with X linked mental retardation are described. Manifestations similar to those seen in the FG syndrome include severe constipation, tall, broad foreheads, hypotonia, and cowlicks of the hair line, but no individual patient had all the features of the syndrome and none had macrocephaly. The facial appearance was distinctive but different from that seen in the FG syndrome. The cases are presented in order to discuss the phenotypic limits of the FG syndrome and to consider the need to separate other distinct but similar entities.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2336/1015621/316512373cae/jmedgene00056-0023-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2336/1015621/96e7a465af67/jmedgene00056-0022-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2336/1015621/9778f423fdd8/jmedgene00056-0023-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2336/1015621/316512373cae/jmedgene00056-0023-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2336/1015621/96e7a465af67/jmedgene00056-0022-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2336/1015621/9778f423fdd8/jmedgene00056-0023-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2336/1015621/316512373cae/jmedgene00056-0023-b.jpg

相似文献

1
X linked mental retardation: a family with a separate syndrome?
J Med Genet. 1989 Jun;26(6):373-8. doi: 10.1136/jmg.26.6.373.
2
[Phenotypic screening for X-linked mental retardation: fragile Xq syndrome].
Rev Chil Pediatr. 1982 Sep-Oct;53(5):419-25.
3
Fragile X syndrome: a major cause of X-linked mental retardation.脆性X综合征:X连锁智力迟钝的主要原因。
Compr Ther. 1988 Jul;14(7):3-7.
4
Marker X-associated mental retardation. A study of 150 retarded males.与标记X相关的智力迟钝。对150名智力迟钝男性的研究。
Clin Genet. 1983 Jun;23(6):397-404. doi: 10.1111/j.1399-0004.1983.tb01973.x.
5
Bibliography on X-linked mental retardation, the fragile X and related subjects IV (1988).
Am J Med Genet. 1988 May-Jun;30(1-2):31-60. doi: 10.1002/ajmg.1320300103.
6
Linkage analysis of X-linked mental retardation with and without fragile-X using factor IX gene probe.使用凝血因子IX基因探针,对伴有和不伴有脆性X染色体的X连锁智力迟钝进行连锁分析。
Lancet. 1984 Aug 11;2(8398):349. doi: 10.1016/s0140-6736(84)92715-6.
7
Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation.一个患有脆性X连锁智力迟钝的家族中智力迟钝与脆性位点表达的分离
Hum Genet. 1988 Dec;80(4):375-8. doi: 10.1007/BF00273654.
8
The FG syndrome: 7 new cases.
Clin Genet. 1985 Jun;27(6):582-94. doi: 10.1111/j.1399-0004.1985.tb02043.x.
9
Fragile X-linked mental retardation: the Martin-Bell syndrome.脆性X连锁智力障碍:马丁-贝尔综合征。
J Ment Defic Res. 1981 Dec;25 Pt 4:253-6. doi: 10.1111/j.1365-2788.1981.tb00115.x.
10
Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.
Am J Med Genet. 1999 Sep 10;86(2):112-4. doi: 10.1002/(sici)1096-8628(19990910)86:2<112::aid-ajmg4>3.0.co;2-3.

本文引用的文献

1
Familial sex-linked mental retardation.家族性X连锁智力迟钝
Can Med Assoc J. 1962 Nov 3;87(18):954-6.
2
A new X-linked multiple congenital anomalies/mental retardation syndrome.一种新的X连锁多发性先天性畸形/智力发育迟缓综合征。
Am J Med Genet. 1984 Jan;17(1):367-74. doi: 10.1002/ajmg.1320170130.
3
A form of X-linked mental retardation with marfanoid habitus.一种伴有类马凡氏体型的X连锁智力障碍形式。
Am J Med Genet. 1984 Jan;17(1):311-22. doi: 10.1002/ajmg.1320170124.
4
An anthropometric study of males with the fragile-X syndrome.一项针对脆性X综合征男性患者的人体测量学研究。
Am J Med Genet. 1984 Jan;17(1):159-74. doi: 10.1002/ajmg.1320170110.
5
X-linked mental retardation associated with bilateral clasp thumb anomaly.
Am J Med Genet. 1984 Jan;17(1):333-8. doi: 10.1002/ajmg.1320170126.
6
Conference report: International Workshop on the fragile X and X-linked mental retardation.
Am J Med Genet. 1984 Jan;17(1):5-94. doi: 10.1002/ajmg.1320170103.
7
A new form of X-linked mental retardation with growth retardation, deafness, and microgenitalism.一种伴有生长发育迟缓、耳聋和小生殖器的X连锁智力障碍新类型。
Am J Hum Genet. 1980 Sep;32(5):714-22.
8
X-chromosomal recessive microcephaly with epilepsy, spastic tetraplegia and absent abdominal reflexes. New variety of "Paine syndrome"?
Humangenetik. 1973;20(2):113-7. doi: 10.1007/BF00284845.
9
A new X-linked mental retardation syndrome.
Am J Med Genet. 1985 Aug;21(4):697-705. doi: 10.1002/ajmg.1320210411.
10
A new X-linked mental retardation syndrome.
Am J Med Genet. 1987 Jan;26(1):13-5. doi: 10.1002/ajmg.1320260104.