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9号染色体q臂间质性缺失并伴有缺失片段形成环状染色体。1例病例报告。

Interstitial deletion of chromosome 9q with coexistence of the deleted segment as a ring chromosome. A case report.

作者信息

Pfeiffer R A, Trautmann U, Hirmer-Stoll R

机构信息

Institut für Humangenetik, Friedrich-Alexander Universität Erlangen-Nürnberg, Germany.

出版信息

Ann Genet. 1991;34(3-4):247-51.

PMID:1809234
Abstract

In a mentally retarded female an interstitial deletion of a chromosome 9 and an additional ring chromosome was shown, which by positive hybridisation with a no 9 library was considered to be the excised segment. The functional centromere and C and DA/DAPI positive material as well on the ring chromosome are explained by a break within the centromere close to the constitutive heterochromatin and supports the hypothesis of "latent" centromere(s).

摘要

在一名智力发育迟缓的女性中,发现了9号染色体的间质缺失以及一条额外的环状染色体,通过与9号染色体文库的阳性杂交,该环状染色体被认为是切除的片段。环状染色体上的功能性着丝粒以及C和DA/DAPI阳性物质可以通过着丝粒内靠近组成型异染色质的断裂来解释,这支持了“潜在”着丝粒的假说。

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引用本文的文献

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Interstitial deletion of proximal 8q including part of the centromere from unbalanced segregation of a paternal deletion/marker karyotype with neocentromere formation at 8p22.近端8q的间质缺失,包括由于父源性缺失/标记核型的不平衡分离导致的部分着丝粒缺失,并在8p22形成新着丝粒。
Cytogenet Genome Res. 2011;132(4):227-32. doi: 10.1159/000322815. Epub 2011 Jan 6.
2
Meiotic and mitotic behaviour of a ring/deleted chromosome 22 in human embryos determined by preimplantation genetic diagnosis for a maternal carrier.通过对一位母亲携带者进行植入前基因诊断确定人类胚胎中一条环状/缺失22号染色体的减数分裂和有丝分裂行为。
Mol Cytogenet. 2009 Jan 23;2:3. doi: 10.1186/1755-8166-2-3.
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Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.
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Am J Hum Genet. 2008 Feb;82(2):398-410. doi: 10.1016/j.ajhg.2007.10.013.
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Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.具有复杂核型的女性中活性X染色体环状结构导致的严重表型:特征描述与重复研究
J Med Genet. 1998 Nov;35(11):932-8. doi: 10.1136/jmg.35.11.932.