Prenatal diagnosis and molecular characterization of two constitutional rings derived from one chromosome 22.

作者信息

Gadji Macoura, Krabchi Kada, Langis Paul, Aboura Azeddine, Périgny Martine, Côté Stéphanie, Ferland Mélissa, Drouin Régen

机构信息

Division of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Quebec, Canada.

出版信息

Am J Med Genet A. 2011 Feb;155A(2):430-3. doi: 10.1002/ajmg.a.33654.

DOI:10.1002/ajmg.a.33654

PMID:21271667

Abstract

摘要

相似文献

Prenatal diagnosis and molecular characterization of two constitutional rings derived from one chromosome 22.

Am J Med Genet A. 2011 Feb;155A(2):430-3. doi: 10.1002/ajmg.a.33654.

Chromosome 22q11 deletion presenting as the Potter sequence.呈现为波特序列的22号染色体q11缺失

J Med Genet. 1997 May;34(5):423-5. doi: 10.1136/jmg.34.5.423.

An analphoid supernumerary marker chromosome derived from chromosome 3 ascertained in a fetus with multiple malformations.在一名患有多种畸形的胎儿中确定的一条源自3号染色体的无着丝粒额外标记染色体。

J Med Genet. 2000 Oct;37(10):807-10. doi: 10.1136/jmg.37.10.807.

Tracheobronchial anomalies in chromosome 22q11.2 microdeletion.

Am J Med Genet A. 2006 Apr 1;140(7):790-3. doi: 10.1002/ajmg.a.31155.

Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report.额外的8号环状染色体：一例报告的临床与分子细胞遗传学特征

Am J Med Genet A. 2004 Oct 15;130A(3):288-94. doi: 10.1002/ajmg.a.20677.

Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints.4号环状染色体胎儿4p和4q的部分缺失：断点的表型及分子定位

J Med Genet. 2002 May;39(5):E23. doi: 10.1136/jmg.39.5.e23.

Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion.产前诊断出因母系遗传的臂间倒位衍生的22号环状染色体上意外发生的22q11.2间质缺失，导致动脉干和胸腺发育不全。

Prenat Diagn. 2006 Dec;26(13):1212-5. doi: 10.1002/pd.1590.

Molecular characterization of a ring chromosome 15 in a fetus with intra uterine growth retardation and diaphragmatic hernia.一名患有宫内生长迟缓及膈疝胎儿的15号环状染色体的分子特征分析

Prenat Diagn. 2007 May;27(5):471-4. doi: 10.1002/pd.1707.

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly.产前诊断5号染色体（q15q31.1）遗传性间质缺失，表现为先天性挛缩性蜘蛛指（趾）症特征。

Am J Med Genet. 1998 May 18;77(3):188-97.

Prenatal detection and characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 22 with apparently normal phenotype.产前检测及鉴定一条源自22号染色体的小额外标记染色体（sSMC），其表型明显正常。

Prenat Diagn. 2006 Oct;26(10):898-902. doi: 10.1002/pd.1520.

引用本文的文献

A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome.一名患有猫眼综合征的男孩中，通过阵列比较基因组杂交鉴定出一种新发的非典型环状22号染色体小标记染色体（sSMC(22)）。

Mol Cytogenet. 2014 Jun 5;7:37. doi: 10.1186/1755-8166-7-37. eCollection 2014.

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