• 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

一名患有智力障碍/多先天性异常综合征及皮肤色素沉着异常的儿童中18号染色体的三重结构嵌合体。

Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation.

作者信息

Bocian E, Mazurczak T, Buława E, Stańczak H, Rowicka G

机构信息

Department of Genetics, National Research Institute of Mother and Child, Warsaw, Poland.

出版信息

J Med Genet. 1993 Jul;30(7):614-5. doi: 10.1136/jmg.30.7.614.

DOI:10.1136/jmg.30.7.614
PMID:8411041
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016468/
Abstract

A case of triple mosaicism involving chromosome 18 is described in a girl with abnormal skin pigmentation similar to hypomelanosis of Ito. The karyotype is 46,XX, -18, + del(18)(p11.23-->pter)/46,XX, -18, + idic(18)(p11.23)/46,XX, -18, + r(18). The patient displays some clinical features of monosomy 18p and a few signs of trisomy 18q. Our case illustrates a non-random association of chromosomal mosaicism with abnormal skin pigmentation.

摘要

一名患有类似伊藤色素减退症的皮肤色素沉着异常的女孩被诊断出患有涉及18号染色体的三重嵌合体病例。其核型为46,XX, -18, + del(18)(p11.23→pter)/46,XX, -18, + idic(18)(p11.23)/46,XX, -18, + r(18)。该患者表现出一些18p单体的临床特征和一些18q三体的体征。我们的病例说明了染色体嵌合体与皮肤色素沉着异常之间的非随机关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f92f/1016468/33e44672c21e/jmedgene00009-0081-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f92f/1016468/8c500b7dc10e/jmedgene00009-0080-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f92f/1016468/33e44672c21e/jmedgene00009-0081-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f92f/1016468/8c500b7dc10e/jmedgene00009-0080-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f92f/1016468/33e44672c21e/jmedgene00009-0081-a.jpg

相似文献

1
Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation.一名患有智力障碍/多先天性异常综合征及皮肤色素沉着异常的儿童中18号染色体的三重结构嵌合体。
J Med Genet. 1993 Jul;30(7):614-5. doi: 10.1136/jmg.30.7.614.
2
Unusual cytogenetic mosaicism involving chromosome 14 abnormalities in a child with an MR/MCA syndrome and abnormal pigmentation.一名患有智力障碍/多重先天性异常综合征及色素沉着异常的儿童出现涉及14号染色体异常的罕见细胞遗传学镶嵌现象。
Clin Genet. 1989 Sep;36(3):189-95. doi: 10.1111/j.1399-0004.1989.tb03187.x.
3
Hypomelanosis of ito and a 'mirror image' whole chromosome duplication resulting in trisomy 14 mosaicism.伊藤色素减退症与“镜像”全染色体重复导致的14三体镶嵌现象。
Ann Genet. 2000 Jan-Mar;43(1):39-43. doi: 10.1016/s0003-3995(00)00012-5.
4
An unexpected finding in a child with neurological problems: mosaic ring chromosome 18.一名患有神经系统问题儿童的意外发现：嵌合型环状18号染色体。
Eur J Pediatr. 2008 Jun;167(6):655-9. doi: 10.1007/s00431-007-0568-y. Epub 2007 Aug 1.
5
Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX, - 13, + t(13;13)(p11;q11)/46,XX,del(13)(p11).因新发13/13易位伴随后续分裂导致的13三体嵌合体。核型：46,XX, - 13, + t(13;13)(p11;q11)/46,XX,del(13)(p11)
Hum Genet. 1979 Jan 25;46(2):237-41. doi: 10.1007/BF00291927.
6
46,XY del(18)(q21.3q22.2) with mosaicism of r(18) and a milder form of the 18q- syndrome.
Clin Genet. 1993 Feb;43(2):76-8. doi: 10.1111/j.1399-0004.1993.tb04431.x.
7
Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,XX,+18,+20).皮肤色素异常与双常染色体三体（48,XX,+18,+20）的嵌合体现象。
Genet Couns. 1998;9(4):283-6.
8
Hypomelanosis of Ito--a nonspecific marker of somatic mosaicism: report of case with trisomy 18 mosaicism.伊藤色素减退症——体细胞镶嵌现象的非特异性标志物：18三体镶嵌现象病例报告
Am J Med Genet. 1990 Mar;35(3):422-4. doi: 10.1002/ajmg.1320350320.
9
Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype.一条18号环状染色体从一名具有46,XX/47,XX, + r(18)嵌合体的母亲遗传给她的女儿，导致女儿的核型为46,XX,r(18)。
J Med Genet. 1993 Nov;30(11):964-5. doi: 10.1136/jmg.30.11.964.
10
Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation.两名患有多种先天性畸形和智力发育迟缓的女孩存在9号染色体三体嵌合体。
J Med Genet. 1993 May;30(5):433-5. doi: 10.1136/jmg.30.5.433.

引用本文的文献

1
Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report.三管齐下的细胞遗传学技术在一个具有畸形特征的孩子中勾勒出 18 号染色体镶嵌异常：病例报告。
BMC Med Genomics. 2020 Sep 24;13(1):141. doi: 10.1186/s12920-020-00796-9.
2
Pigmentary mosaicism: a review of original literature and recommendations for future handling.色素镶嵌症：原始文献回顾与未来处理建议
Orphanet J Rare Dis. 2018 Mar 5;13(1):39. doi: 10.1186/s13023-018-0778-6.

本文引用的文献

1
Three receptor-linked protein-tyrosine phosphatases are selectively expressed on central nervous system axons in the Drosophila embryo.
Cell. 1991 Nov 15;67(4):675-85. doi: 10.1016/0092-8674(91)90063-5.
2
Two Drosophila receptor-like tyrosine phosphatase genes are expressed in a subset of developing axons and pioneer neurons in the embryonic CNS.
Cell. 1991 Nov 15;67(4):661-73. doi: 10.1016/0092-8674(91)90062-4.