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7号染色体间质缺失(q35)。

An interstitial deletion of chromosome 7(q35).

作者信息

Fagan K, Kennedy C, Roddick L, Colley A

机构信息

Cytogenetics Unit, John Hunter Hospital, NSW, Australia.

出版信息

J Med Genet. 1994 Sep;31(9):738-9. doi: 10.1136/jmg.31.9.738.

DOI:10.1136/jmg.31.9.738
PMID:7529320
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050089/
Abstract

We describe a patient with developmental delay, mild dysmorphic features, and monosomy of 7q35. Only one other patient with an interstitial deletion of this band has been previously reported. A review of clinical features of these two children did not show similarities in dysmorphic features. Reports of patients with other 7q interstitial deletions are listed.

摘要

我们描述了一名患有发育迟缓、轻度畸形特征以及7q35单体性的患者。此前仅报道过另外一名患有该条带间质性缺失的患者。对这两名儿童的临床特征进行回顾后发现,畸形特征并无相似之处。文中列出了其他7q间质性缺失患者的报告。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/124d/1050089/c57ad52d4d9d/jmedgene00288-0079-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/124d/1050089/e396ba44255d/jmedgene00288-0079-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/124d/1050089/c57ad52d4d9d/jmedgene00288-0079-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/124d/1050089/e396ba44255d/jmedgene00288-0079-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/124d/1050089/c57ad52d4d9d/jmedgene00288-0079-b.jpg

相似文献

1
An interstitial deletion of chromosome 7(q35).7号染色体间质缺失(q35)。
J Med Genet. 1994 Sep;31(9):738-9. doi: 10.1136/jmg.31.9.738.
2
Developmental delay and dysmorphic features associated with a previously undescribed deletion on chromosome 1.发育迟缓及畸形特征与1号染色体上一个此前未被描述的缺失相关。
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De novo terminal deletion of chromosome 7 [46,XX,del(7)(q35)].
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Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features.两名发育迟缓伴畸形特征患儿中发现的 12p12 缺失涉及 SOX5。
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引用本文的文献

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Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.两个包含 CNTNAP2 和 KMT2C 的新的 7q35q36.1 染色质间缺失病例。
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2
An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly.一名患有智力残疾、严重语言发育迟缓及重度小头畸形患者的7q33 - 36.1间质性缺失
Case Rep Genet. 2016;2016:6046351. doi: 10.1155/2016/6046351. Epub 2016 Dec 8.
3
Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome.

本文引用的文献

1
Clinical, chromosomal and enzymatic studies in four cases of rearrangements of chromosome 7.
Clin Genet. 1985 Jun;27(6):564-9. doi: 10.1111/j.1399-0004.1985.tb02041.x.
2
De novo 3q/7q translocation and associated interstitial 7q35 deletion.新发3q/7q易位及相关的7q35间质缺失。
Clin Genet. 1988 Jan;33(1):60-2. doi: 10.1111/j.1399-0004.1988.tb04267.x.
3
A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase.7q间质性缺失及β-葡萄糖醛酸酶基因排除定位的总结
一名患有智力残疾和畸形特征患者的7q33-q35缺失:7q间质性缺失综合征的进一步特征分析
Case Rep Genet. 2015;2015:131852. doi: 10.1155/2015/131852. Epub 2015 May 3.
J Med Genet. 1989 Oct;26(10):619-25. doi: 10.1136/jmg.26.10.619.
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The interstitial deletion of bands q33-35 of long arm of chromosome 7: a review with a new case report.
Clin Genet. 1992 Feb;41(2):82-6. doi: 10.1111/j.1399-0004.1992.tb03638.x.
5
Familial partial 7q monosomy resulting from segregation of an insertional chromosome rearrangement.因插入性染色体重排分离导致的家族性部分7号染色体单体性
J Med Genet. 1979 Dec;16(6):461-6. doi: 10.1136/jmg.16.6.461.