伴有永存左上腔静脉和肥厚性主动脉瓣下狭窄的E环染色体。 - Suppr

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超能文献

E ring chromosome with persistent left superior vena cava and hypertrophic subaortic stenosis.

作者信息

Wald S, Engel E, Nance W E, Davies J, Puyau F A, Sinclair-Smith B C

出版信息

J Med Genet. 1969 Sep;6(3):328-33. doi: 10.1136/jmg.6.3.328.

DOI:10.1136/jmg.6.3.328

PMID:5388064

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1468731/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7c7/1468731/85b4cb86223a/jmedgene00374-0098-a.jpg

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E ring chromosome with persistent left superior vena cava and hypertrophic subaortic stenosis.伴有永存左上腔静脉和肥厚性主动脉瓣下狭窄的E环染色体。

J Med Genet. 1969 Sep;6(3):328-33. doi: 10.1136/jmg.6.3.328.

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Ring chromosome 18 in a mentally retarded boy.一名智力发育迟缓男孩的18号环状染色体。

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J Med Genet. 1968 Sep;5(3):220-3. doi: 10.1136/jmg.5.3.220.

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Dicentric chromosome due to an unusual fusion.由于异常融合导致的双着丝粒染色体。

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Implantation of a pacemaker in a patient with persistent left superior vena cava and absence of right superior vena cava.在一名存在持续左上腔静脉且右上腔静脉缺如的患者体内植入起搏器。

Int J Cardiol. 2013 Sep 30;168(2):e53-4. doi: 10.1016/j.ijcard.2013.06.108. Epub 2013 Jul 24.

Short arm deletion of chromosome 18.18号染色体短臂缺失

Tohoku J Exp Med. 1967 Nov;93(3):291-300. doi: 10.1620/tjem.93.291.

引用本文的文献

Ring chromosome 18 in combination with 18q12.1 (DTNA) interstitial microdeletion in a patient with multiple congenital defects.一名患有多种先天性缺陷的患者中，18号环状染色体与18q12.1（DTNA）间质性微缺失并存。

Mol Cytogenet. 2016 Feb 18;9:18. doi: 10.1186/s13039-016-0229-9. eCollection 2016.

Mammalian chromosomes contain cis-acting elements that control replication timing, mitotic condensation, and stability of entire chromosomes.哺乳动物染色体包含顺式作用元件，这些元件控制着复制时间、有丝分裂浓缩以及整个染色体的稳定性。

Bioessays. 2012 Sep;34(9):760-70. doi: 10.1002/bies.201200035. Epub 2012 Jun 18.

On the localization of genes on certain autosomes of man through chromosome aberrations. 3. Exclusion of the possibility of gene assignment.通过染色体畸变对人类某些常染色体上基因的定位。3. 排除基因定位的可能性。

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[Ring chromosome 18. 18p-/18q- -deletion-syndrome].[环状染色体18。18p - /18q - 缺失综合征]

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Common A-V orifice with pulmonary valvular and hypertrophic subaortic stenosis.伴有肺动脉瓣和肥厚性主动脉瓣下狭窄的共同房室口。

Am J Cardiol. 1962 Aug;10:291-7. doi: 10.1016/0002-9149(62)90311-9.

Obstruction of left ventricular outlet in association with ventricular septal defect.左心室流出道梗阻合并室间隔缺损。

Circulation. 1960 Jul;22:110-25. doi: 10.1161/01.cir.22.1.110.

PERSISTENT LEFT SUPERIOR VENA CAVA DRAINING INTO THE LEFT ATRIUM WITHOUT ARTERIAL OXYGEN UNSATURATION.永存左上腔静脉引流至左心房且无动脉血氧不饱和情况。

Am J Cardiol. 1965 Aug;16:273-9. doi: 10.1016/0002-9149(65)90484-4.

MULTIPLE CONGENITAL ANOMALIES ASSOCIATED WITH A PARTIALLY RING-SHAPED CHROMOSOME PROBABLY DERIVED FROM CHROMOSOME NO. 18 IN MAN.与一条可能源自人类第18号染色体的部分环形染色体相关的多种先天性畸形。

Nature. 1964 May 23;202:829-30. doi: 10.1038/202829a0.

The developmental complex of "parachute mitral valve," supravalvular ring of left atrium, subaortic stenosis, and coarctation of aorta.“降落伞样二尖瓣”、左心房瓣上环、主动脉瓣下狭窄及主动脉缩窄的发育复合体。

Am J Cardiol. 1963 Jun;11:714-25. doi: 10.1016/0002-9149(63)90098-5.

Left superior vena cava: a review of associated congenital heart lesions, catheterization data and roentgenologic findings.左上腔静脉：相关先天性心脏病变、心导管检查数据及X线表现的综述

Am J Med. 1961 Nov;31:711-6. doi: 10.1016/0002-9343(61)90155-3.

Persistent left superior vena cava.永存左上腔静脉

Am J Cardiol. 1959 Nov;4:677-85. doi: 10.1016/0002-9149(59)90154-7.

Persistent left superior vena cava draining into the left atrium, as an isolated anomaly.

Am Heart J. 1959 Apr;57(4):616-22. doi: 10.1016/0002-8703(59)90036-5.

Development of the pulmonary veins; with reference to the embryology of anomalies of pulmonary venous return.肺静脉的发育；参考肺静脉回流异常的胚胎学

Pediatrics. 1956 Dec;18(6):880-7.

Superior vena cava draining into left atrium; another cause for left ventricular hypertrophy with cyanotic congenital heart disease.

Am J Med. 1956 Sep;21(3):481-4. doi: 10.1016/0002-9343(56)90047-x.

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