Copy Number Variations in a Case with Intractable Epilepsy, Intellectual Disability, and Hereditary Neuropathy with Liability to Pressure Palsies Having a 17p12 Deletion.

IF 1.1 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

Internal Medicine Pub Date : 2025-10-01 Epub Date: 2025-04-12 DOI:10.2169/internalmedicine.4811-24

Kengo Maeda

引用次数: 0

Abstract

Some copy number variations (CNVs) in DNA are associated with the development of pathological phenotypes. Regarding the diagnosis of recurrent radial nerve palsies, a 73-year-old female patient with intractable epilepsy and intellectual disability was diagnosed with duplicated 15q11.1-11.2, in addition to a deletion of 17p12, causing hereditary neuropathy with liability to pressure palsies. CNVs in 15q11.1-11.2 have been reported in patients with schizophrenia and autism. Although CNVs are also sometimes seen in healthy individuals, duplicated 15q11.1-11.2 could be associated with CNS symptoms in this patient.

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具有17p12缺失的难治性癫痫、智力残疾和遗传性神经病伴压迫性麻痹的病例的拷贝数变异

DNA中的一些拷贝数变异（CNVs）与病理表型的发生有关。关于复发性桡神经麻痹的诊断，一名73岁女性顽固性癫痫并智力障碍患者被诊断为重复15q11.1-11.2，并缺失17p12，导致遗传性神经病变，易发生压迫性麻痹。在精神分裂症和自闭症患者中已经报道了15q11 -11.2的CNVs。虽然在健康个体中有时也可见到CNVs，但重复的15q11.1-11.2可能与该患者的中枢神经系统症状有关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Internal Medicine 医学-医学：内科

CiteScore

1.90

自引率

8.30%

发文量

审稿时长

2.2 months

期刊介绍： Internal Medicine is an open-access online only journal published monthly by the Japanese Society of Internal Medicine. Articles must be prepared in accordance with "The Uniform Requirements for Manuscripts Submitted to Biomedical Journals (see Annals of Internal Medicine 108: 258-265, 1988), must be contributed solely to the Internal Medicine, and become the property of the Japanese Society of Internal Medicine. Statements contained therein are the responsibility of the author(s). The Society reserves copyright and renewal on all published material and such material may not be reproduced in any form without the written permission of the Society.