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利用 array comparative genomic hybridization 和荧光原位杂交技术对 20 例小型额外标记染色体进行分子特征分析。

Molecular characterization of 20 small supernumerary marker chromosome cases using array comparative genomic hybridization and fluorescence in situ hybridization.

机构信息

Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA.

Department of Hematology and Oncology, Anshan Hospital, the First Hospital of China Medical University, Anshan City, Liaoning, 114000, China.

出版信息

Sci Rep. 2017 Sep 4;7(1):10395. doi: 10.1038/s41598-017-10466-z.

Abstract

The variability of a small supernumerary marker chromosome (sSMC)-related phenotype is determined by the molecular component, the size, and shape of the marker chromosome. As fluorescence in situ hybridization has limitations regarding the resolution, efficiency, and accuracy. Recently, array comparative genomic hybridization (aCGH) was used for sSMC characterization. In this study, twenty cases with sSMCs were characterized by aCGH and FISH. Chromosomal origin of the marker chromosomes were successfully identified in seventeen of them. For the three cases with negative aCGH results, two of them were more likely due to that the sSMCs only contained centromere heterochromatin, whereas the reason for the remaining case with negative aCGH finding was uncertain. In order to establish a stronger genotype-phenotype correlation for clinical service in the future and avoid miss characterization, more sSMC cases were needed to be detailed characterized. This will help to clarify the variable clinical characteristics of sSMCs and provide additional information to aid clinical service and future research.

摘要

小型额外标记染色体 (sSMC) 相关表型的变异性取决于分子成分、标记染色体的大小和形状。由于荧光原位杂交在分辨率、效率和准确性方面存在局限性。最近,阵列比较基因组杂交 (aCGH) 被用于 sSMC 特征描述。在这项研究中,通过 aCGH 和 FISH 对二十例 sSMC 进行了特征描述。其中十七例成功鉴定了标记染色体的染色体来源。对于 aCGH 结果为阴性的三个病例,其中两个更可能是因为 sSMC 仅含有着丝粒异染色质,而另一个病例 aCGH 结果为阴性的原因尚不确定。为了将来为临床服务建立更强的基因型-表型相关性并避免特征描述错误,需要更多的 sSMC 病例进行详细特征描述。这将有助于阐明 sSMC 的可变临床特征,并提供更多信息以辅助临床服务和未来研究。

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