一条明显源自9p的无着丝粒标记染色体，带有一个功能性着丝粒，无可检测到的α和β卫星序列。

An apparently acentric marker chromosome originating from 9p with a functional centromere without detectable alpha and beta satellite sequences.

作者信息

Vance G H, Curtis C A, Heerema N A, Schwartz S, Palmer C G

机构信息

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA.

出版信息

Am J Med Genet. 1997 Sep 5;71(4):436-42. doi: 10.1002/(sici)1096-8628(19970905)71:4<436::aid-ajmg13>3.0.co;2-h.

DOI:10.1002/(sici)1096-8628(19970905)71:4<436::aid-ajmg13>3.0.co;2-h

PMID:9286452

Abstract

Recently, we studied a patient with minor abnormalities and an apparently acentric marker chromosome who carried a deleted chromosome 9 and a marker chromosome in addition to a normal chromosome 9. The marker was stable in mitosis but lacked a primary constriction. The origin of the marker was established by fluorescent in situ hybridization (FISH) using a chromosome 9 painting probe. Hybridization of unique sequence 9p probes localized the breakpoint proximal to 9p13. Additional FISH studies with all-human centromere alpha satellite, chromosome 9 classical satellite, and beta satellite probes showed no visible evidence of these sequences on the marker [Curtis et al.: Am J Hum Genet 57:A111, 1995]. Studies using centromere proteins (CENP-B, CENP-C, and CENP-E) were performed and demonstrated the presence of centromere proteins. These studies and the patient's clinical findings are reported here.

摘要

最近，我们研究了一名患者，该患者有轻微异常且有一条明显无着丝粒的标记染色体，除了一条正常的9号染色体外，还携带一条缺失的9号染色体和一条标记染色体。该标记在有丝分裂中稳定，但缺乏主缢痕。使用9号染色体涂染探针通过荧光原位杂交（FISH）确定了该标记的起源。独特序列9p探针的杂交将断点定位在9p13近端。使用全人着丝粒α卫星、9号染色体经典卫星和β卫星探针进行的其他FISH研究显示，在该标记上没有这些序列的可见证据[柯蒂斯等人：《美国人类遗传学杂志》57：A111，1995年]。进行了使用着丝粒蛋白（CENP - B、CENP - C和CENP - E）的研究，并证实了着丝粒蛋白的存在。此处报告了这些研究以及患者的临床发现。