• 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

22号染色体三体合并前脑无裂畸形:一项临床病理研究。

Trisomy 22 with holoprosencephaly: a clinicopathologic study.

作者信息

Isada N B, Bolan J C, Larsen J W, Kent S G

机构信息

Department of Obstetrics and Gynecology, George Washington University Medical Center, Washington, DC 20037.

出版信息

Teratology. 1990 Oct;42(4):333-6. doi: 10.1002/tera.1420420402.

DOI:10.1002/tera.1420420402
PMID:2255998
Abstract

Trisomy 22 (47, XY, +22) was found at 17 weeks gestation in one fetus of a twin gestation. The karyotypes of both parents and of the other twin were normal. Abnormal prenatal findings included maternal pre-eclampsia, fetal growth retardation, and progressive intracranial sonolucency of the trisomic fetus. Delivery by cesarean section at 36 weeks gestation yielded a normal healthy female weighing 2,822 grams and a markedly macerated dysmorphic male weighing 642 grams. Holoprosencephaly was found in the trisomic fetus, an unusual feature in trisomy 22. Additional findings in this case are compared to other findings in the literature.

摘要

在双胎妊娠的一个胎儿孕17周时发现22三体(47, XY, +22)。父母双方及另一胎儿的核型均正常。产前异常表现包括母亲子痫前期、胎儿生长受限以及三体胎儿进行性颅内透声。孕36周行剖宫产分娩出一名体重2822克的健康正常女婴和一名体重642克、明显浸软变形的男婴。在三体胎儿中发现了前脑无裂畸形,这在22三体中是不常见的特征。将该病例的其他发现与文献中的其他发现进行了比较。

相似文献

1
Trisomy 22 with holoprosencephaly: a clinicopathologic study.22号染色体三体合并前脑无裂畸形:一项临床病理研究。
Teratology. 1990 Oct;42(4):333-6. doi: 10.1002/tera.1420420402.
2
Twin pregnancy discordant for trisomy 14 mosaicism: prenatal sonographic findings.14号染色体三体性嵌合体不一致的双胎妊娠:产前超声检查结果
Prenat Diagn. 1998 May;18(5):481-4.
3
Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?4号染色体短臂三体的产前诊断:全前脑畸形的一个新位点?
Prenat Diagn. 2005 Mar;25(3):193-7. doi: 10.1002/pd.1102.
4
Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis.18号染色体短臂部分单体(18p11.2→pter)及21号染色体长臂三体(21q22.3→qter)合并无叶全前脑及上颌骨发育不全的产前诊断
Prenat Diagn. 2001 May;21(5):346-50. doi: 10.1002/pd.63.
5
Discordant semilobar holoprosencephaly in monozygotic twins with de novo inv dup(15) marker chromosome and de novo mutation on SHH gene.单卵双胞胎中出现的不对称半侧全前脑畸形,伴有新发inv dup(15)标记染色体和SHH基因的新发突变。
Fetal Diagn Ther. 2007;22(5):389-93. doi: 10.1159/000103302. Epub 2007 Jun 5.
6
Prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia.小头畸形、无脑叶全前脑畸形和独眼畸形胎儿的3p部分三体(3p23→pter)和7q单体(7q36→qter)的产前诊断
Prenat Diagn. 1999 Oct;19(10):986-9.
7
Monozygotic twins with trisomy 18 of paternal origin: prenatal diagnosis and molecular cytogenetic characterization in a pregnancy with one structurally abnormal living fetus and one intrauterine fetal demise.父源三体 18 型同卵双胞胎:一胎为结构异常活胎,一胎宫内胎儿死亡妊娠的产前诊断和分子细胞遗传学特征。
Taiwan J Obstet Gynecol. 2012 Sep;51(3):430-4. doi: 10.1016/j.tjog.2012.07.021.
8
Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance.胎儿中的假三体13:对常染色体隐性遗传的进一步支持。
Turk J Pediatr. 2008 May-Jun;50(3):287-90.
9
Prenatal diagnosis of iniencephaly and alobar holoprosencephaly with trisomy 13 mosaicism: a case report.产前诊断无脑儿、叶状全前脑畸形合并13三体嵌合体:一例报告
Prenat Diagn. 2002 Dec;22(13):1240-1. doi: 10.1002/pd.484.
10
Prenatal diagnosis of trisomy 18p and distal 21q22.3 deletion.18号染色体短臂三体及21号染色体长臂22.3远端缺失的产前诊断。
Prenat Diagn. 2003 Sep;23(9):758-61. doi: 10.1002/pd.684.

引用本文的文献

1
Syndromes associated with holoprosencephaly.与前脑无裂畸形相关的综合征。
Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):229-237. doi: 10.1002/ajmg.c.31620. Epub 2018 May 17.
2
Hydrocephalus in an infant with trisomy 22.一名患有22三体综合征婴儿的脑积水。
J Med Genet. 1994 Feb;31(2):141-4. doi: 10.1136/jmg.31.2.141.