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A familial rearrangement(3;5;9) with paternal and maternal transmission leading to a duplication 3p/ deletion 5p infant.

作者信息

Rivera Horacio, Domínguez María G

机构信息

División de Genética, CIBO, Instituto Mexicano del Seguro Social, Guadalajara, México.

出版信息

Clinics (Sao Paulo). 2012;67(6):669-72. doi: 10.6061/clinics/2012(06)19.

DOI:10.6061/clinics/2012(06)19
PMID:22760908
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3370321/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0096/3370321/3d506e468cfd/cln-67-06-669-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0096/3370321/ff844db4fc20/cln-67-06-669-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0096/3370321/3d506e468cfd/cln-67-06-669-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0096/3370321/ff844db4fc20/cln-67-06-669-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0096/3370321/3d506e468cfd/cln-67-06-669-g002.jpg

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本文引用的文献

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Complex chromosomal rearrangements: origin and meiotic behavior.复杂染色体重排:起源与减数分裂行为。
Hum Reprod Update. 2011 Jul-Aug;17(4):476-94. doi: 10.1093/humupd/dmr010. Epub 2011 Apr 11.
2
Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints.染色体 6、10 和 11 之间的复杂重排,断裂点有多处缺失。
Am J Med Genet A. 2010 Sep;152A(9):2327-34. doi: 10.1002/ajmg.a.33581.
3
A paternally transmitted complex chromosomal rearrangement (CCR) involving chromosomes 2, 6, and 18 includes eight breakpoints and five insertional translocations (ITs) through three generations.
一涉及 2、6 和 18 号染色体的父源复杂染色体重排(CCR)包含 8 个断裂点和 5 个插入易位(ITs),跨越三代。
Am J Med Genet A. 2010 Jan;152A(1):185-90. doi: 10.1002/ajmg.a.33154.
4
De novo balanced chromosome rearrangements in prenatal diagnosis.产前诊断中的新发平衡染色体重排
Prenat Diagn. 2009 Mar;29(3):257-65. doi: 10.1002/pd.2215.
5
De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array-CGH.卵胞浆内单精子注射后新发复杂染色体内重排:通过细菌人工染色体微阵列比较基因组杂交进行特征分析
Mol Cytogenet. 2008 Dec 23;1:27. doi: 10.1186/1755-8166-1-27.
6
A de novo complex chromosome rearrangement involving chromosomes 2, 3, 5, 9 and 11 detected prenatally and studied postnatally by conventional cytogenetics and molecular cytogenetic analyses.产前检测到并通过传统细胞遗传学和分子细胞遗传学分析在产后进行研究的涉及2号、3号、5号、9号和11号染色体的新发复杂染色体重排。
Fetal Diagn Ther. 2007;22(4):249-53. doi: 10.1159/000100784. Epub 2007 Mar 16.
7
Cri du Chat syndrome.猫叫综合征。
Orphanet J Rare Dis. 2006 Sep 5;1:33. doi: 10.1186/1750-1172-1-33.
8
Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs.由六个断点介导的新发复杂染色体重排(CCR)的产前诊断及20例产前确诊CCR的综述
Prenat Diagn. 2006 Jun;26(6):565-70. doi: 10.1002/pd.1460.
9
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