Inverted-duplication-deletion of chromosome 10q identified in a patient with systemic lupus erythematosus
Inverted-duplication-deletion of chromosome 10q identified in a patient with systemic lupus erythematosus
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在系统性红斑狼疮患者中发现 10q 染色体反向重复缺失
DOI：
10.1111/ped.15396
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发表时间：
2022
影响因子：
1.4
通讯作者：
Shimizu M
中科院分区：
文献类型：
--
作者：
Kaneko S;Shimbo A;Irabu H;Yamamoto T;Shimizu M
本文介绍了一个罕见的染色体重排患者的案例研究，称为染色体10q的反转重复缺失（INV-DUP-DEL 10q）。据报道，本病例患者为女性，自儿童早期就表现出发育迟缓和明显的面部特征。据进一步报道，在13岁时，患者出现系统性红斑狼疮（SLE）的症状。
The article presents a case study of a patient with a rare chromosomal rearrangement known as Inverted-duplication-deletion of chromosome 10q (INV-DUP-DEL 10q). It is reported that the patient in this case was a female who exhibited developmental delay and distinctive facial features since early childhood. It is further reported that at the age of 13, the patient presented with symptoms suggestive of systemic lupus erythematosus (SLE).