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与[具体病因不明]相关的听力损失的诊断陷阱：通过阵列比较基因组杂交分析在一名先天性重度听力损失的日本患者中检测到一种新型缺失。

Diagnostic pitfalls for -related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss.

作者信息

Abe Satoko, Nishio Shin-Ya, Yokota Yoh, Moteki Hideaki, Kumakawa Kozo, Usami Shin-Ichi

机构信息

Department of Otorhinolaryngology Toranomon Hospital Tokyo Japan.

Department of Otolaryngology Shinshu University School of Medicine Nagano Japan.

出版信息

Clin Case Rep. 2018 Sep 21;6(11):2111-2116. doi: 10.1002/ccr3.1800. eCollection 2018 Nov.

DOI:10.1002/ccr3.1800
PMID:30455902
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6230644/
Abstract

Here, we report a novel deletion (copy number variation: CNV) in the gene observed in a Japanese hearing loss patient. The deleted segment started in the middle of the gene, but the gene remained intact. This partial deletion in the gene highlights the need for further improvements in screening.

摘要

在此，我们报告了在一名日本听力损失患者中观察到的该基因的一种新型缺失（拷贝数变异：CNV）。缺失片段始于该基因中部，但该基因其余部分保持完整。该基因中的这种部分缺失凸显了在筛查方面进一步改进的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c33f/6230644/eeea0f0d74c3/CCR3-6-2111-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c33f/6230644/c3d7b638ea0d/CCR3-6-2111-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c33f/6230644/eeea0f0d74c3/CCR3-6-2111-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c33f/6230644/c3d7b638ea0d/CCR3-6-2111-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c33f/6230644/eeea0f0d74c3/CCR3-6-2111-g002.jpg

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