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8p23.1重复：一种尚无明确临床意义的细胞遗传学异常。

Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.

作者信息

Barber J C, Joyce C A, Collinson M N, Nicholson J C, Willatt L R, Dyson H M, Bateman M S, Green A J, Yates J R, Dennis N R

机构信息

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.

出版信息

J Med Genet. 1998 Jun;35(6):491-6. doi: 10.1136/jmg.35.6.491.

DOI:10.1136/jmg.35.6.491
PMID:9643291
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051344/
Abstract

We present seven families with a cytogenetic duplication of the short arm of chromosome 8 at band 8p23.1. The duplication has been transmitted from parents to offspring in four of the seven families. In three families, the source of the extra material and its euchromatic origin were established using FISH with a YAC which was mapped to 8p23.1 and a whole chromosome paint for chromosome 8. FISH signals from this YAC were significantly larger on the duplicated chromosome compared with the normal chromosome in all six family members tested. Comparative genomic hybridisation (CGH) on a representative subject was consistent with these results. The families were ascertained for a variety of mostly incidental reasons including prenatal diagnosis for advanced maternal age. The transmission of this duplication by multiple phenotypically normal family members with no history of reproductive loss suggests the existence of a novel class of 8p23.1 duplications, which can be regarded as euchromatic variants or duplications with no phenotypic effect.

摘要

我们报告了7个家族，其8号染色体短臂在8p23.1带区存在细胞遗传学重复。在这7个家族中的4个家族中，该重复已从父母传递给后代。在3个家族中，利用荧光原位杂交（FISH）技术，使用一个定位到8p23.1的酵母人工染色体（YAC）和8号染色体的全染色体涂染探针，确定了额外物质的来源及其常染色质起源。在所有6名接受检测的家族成员中，与正常染色体相比，该YAC的FISH信号在重复染色体上明显更大。对一名代表性受试者进行的比较基因组杂交（CGH）结果与这些结果一致。这些家族的确定大多是出于各种偶然原因，包括因孕妇年龄较大而进行的产前诊断。多名表型正常且无生殖损失史的家族成员传递这种重复，提示存在一类新的8p23.1重复，可被视为常染色质变异或无表型效应的重复。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/88fb03679d3d/jmedgene00235-0055-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/8f4f7488cd27/jmedgene00235-0052-a.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/38416d7305dc/jmedgene00235-0052-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/efad4c12cbbf/jmedgene00235-0053-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/83ade595b9bb/jmedgene00235-0053-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/b383c86a0216/jmedgene00235-0053-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/edd1e49d427c/jmedgene00235-0053-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/ecd99d01ad4f/jmedgene00235-0054-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/120758f3b0f3/jmedgene00235-0054-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/670523a80cda/jmedgene00235-0054-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/88fb03679d3d/jmedgene00235-0055-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/8f4f7488cd27/jmedgene00235-0052-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/6117c1e25141/jmedgene00235-0052-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/38416d7305dc/jmedgene00235-0052-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/efad4c12cbbf/jmedgene00235-0053-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/83ade595b9bb/jmedgene00235-0053-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/b383c86a0216/jmedgene00235-0053-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/edd1e49d427c/jmedgene00235-0053-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/ecd99d01ad4f/jmedgene00235-0054-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/120758f3b0f3/jmedgene00235-0054-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/670523a80cda/jmedgene00235-0054-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d9a9/1051344/88fb03679d3d/jmedgene00235-0055-a.jpg

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2
Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.近端15q的遗传性间质重复：基因型与表型的相关性
Am J Hum Genet. 1997 Dec;61(6):1342-52. doi: 10.1086/301624.
3
Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23.定位于6号染色体q22-q23区域的新生儿糖尿病印迹基因的进一步证据。
间质性6q21q23重复——可变表型和不完全外显的变异型还是良性重复？
Mol Cytogenet. 2016 Jun 2;9:43. doi: 10.1186/s13039-016-0253-9. eCollection 2016.
4
An evolutionary history of defensins: a role for copy number variation in maximizing host innate and adaptive immune responses.防御素的进化史：拷贝数变异在最大化宿主固有免疫和适应性免疫反应中的作用。
Front Immunol. 2015 Mar 18;6:115. doi: 10.3389/fimmu.2015.00115. eCollection 2015.
5
Genomic profile of copy number variants on the short arm of human chromosome 8.人类 8 号染色体短臂上的拷贝数变异的基因组特征。
Eur J Hum Genet. 2010 Oct;18(10):1114-20. doi: 10.1038/ejhg.2010.66. Epub 2010 May 12.
6
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7
The changing of the guard: Molecular diversity and rapid evolution of beta-defensins.换岗：β-防御素的分子多样性与快速进化
Mol Divers. 2006 Nov;10(4):575-84. doi: 10.1007/s11030-006-9031-7.
8
A case of partial trisomy of chromosome 8p associated with autism.一例与自闭症相关的8号染色体短臂部分三体病例。
J Autism Dev Disord. 2006 Jul;36(5):705-9. doi: 10.1007/s10803-006-0104-3.
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10
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Hum Mol Genet. 1996 Aug;5(8):1117-21. doi: 10.1093/hmg/5.8.1117.
4
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