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5q21带的缺失与涉及2p和5q的新发易位相关。

Deletion of band 5q21 in association with a de novo translocation involving 2p and 5q.

作者信息

Yung J F, Williamson N, Salafsky I, Hoo J J

机构信息

Department of Pediatrics, University of Illinois, Chicago.

出版信息

J Med Genet. 1988 Aug;25(8):570-2. doi: 10.1136/jmg.25.8.570.

DOI:10.1136/jmg.25.8.570
PMID:2459386
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1080038/
Abstract

A six month old girl with developmental delay and dysmorphic features was found to have a translocation involving 2p and 5q as well as a deletion of band 5q21.

摘要

一名发育迟缓且有畸形特征的6个月大女孩被发现存在涉及2号染色体短臂和5号染色体长臂的易位,以及5号染色体长臂21区带的缺失。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bee7/1080038/c290fb2582f9/jmedgene00070-0067-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bee7/1080038/06333fcf88dc/jmedgene00070-0067-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bee7/1080038/c290fb2582f9/jmedgene00070-0067-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bee7/1080038/06333fcf88dc/jmedgene00070-0067-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bee7/1080038/c290fb2582f9/jmedgene00070-0067-b.jpg

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引用本文的文献

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Copy number variations and primary open-angle glaucoma.拷贝数变异与原发性开角型青光眼。
Invest Ophthalmol Vis Sci. 2011 Sep 9;52(10):7122-33. doi: 10.1167/iovs.10-5606. Print 2011.
2
Remarks on constitutional 5q deletions.关于5号染色体长臂结构缺失的评论
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A constitutional 5q23 deletion.一种先天性5号染色体长臂23区缺失。

本文引用的文献

1
A child with interstitial deletion of chromosome No. 5.
Hereditas. 1980;93(2):337-9. doi: 10.1111/j.1601-5223.1980.tb01374.x.
2
Interstitial deletion of the long arm of chromosome no. 5 in two unrelated children with congenital anomalies and mental retardation.两名患有先天性异常和智力障碍的非亲缘关系儿童中5号染色体长臂的间质性缺失。
Clin Genet. 1981 Mar;19(3):174-80. doi: 10.1111/j.1399-0004.1981.tb00692.x.
3
High resolution R- and G-banding on the same preparation.同一标本上的高分辨率R带和G带。
J Med Genet. 1990 Apr;27(4):267-8. doi: 10.1136/jmg.27.4.267.
Hum Genet. 1981;57(1):93-5. doi: 10.1007/BF00271176.
4
Interstitial deletion of the long arm of chromosome 5 in a deformed boy: 46,XY,del(5)(q13q15).一名畸形男孩5号染色体长臂的间质缺失:46,XY,del(5)(q13q15) 。
J Med Genet. 1980 Dec;17(6):486-7. doi: 10.1136/jmg.17.6.486.
5
Interstitial deletion of the long arm of chromosome 5: 46,XX,del(5)(q13q22).5号染色体长臂间质缺失:46,XX,del(5)(q13q22)
J Med Genet. 1982 Dec;19(6):479. doi: 10.1136/jmg.19.6.479.
6
Interstitial deletion in the long arm of chromosome No. 5.5号染色体长臂间质性缺失。
Clin Genet. 1983 Feb;23(2):167-71. doi: 10.1111/j.1399-0004.1983.tb01867.x.
7
The 5q-anomaly.5号染色体异常
Cancer Genet Cytogenet. 1985 Jul;17(3):189-255. doi: 10.1016/0165-4608(85)90016-0.
8
Gardner syndrome in a man with an interstitial deletion of 5q.一名患有5号染色体长臂间质性缺失的男性的加德纳综合征。
Am J Med Genet. 1986 Nov;25(3):473-6. doi: 10.1002/ajmg.1320250309.
9
[Dysmorphism syndrome, mental retardation and interstitial deletion of long arms of chromosome 5].[畸形综合征、智力发育迟缓与5号染色体长臂间质性缺失]
Ann Genet. 1978 Sep;21(3):161-3.