Genomewide array comparative genomic hybridization in 55 Japanese normokaryotypic patients with non-syndromic intellectual disability

Asahina, Miki

doi:https://doi.org/10.4172/2572-5203.1000108

WEKO3

lat lon distance

[[sub_check.contents]]

[[sub_radio.contents]]

Field does not validate

[[sub_attr.contents]]　

インデックスツリー

アイテム

Genomewide array comparative genomic hybridization in 55 Japanese normokaryotypic patients with non-syndromic intellectual disability

http://hdl.handle.net/10271/3224

名前 / ファイル	ライセンス	アクション
論文本文 (315.2 kB)

Item type

学位論文 / Thesis or Dissertation(1)

公開日

2018-03-06

タイトル

Genomewide array comparative genomic hybridization in 55 Japanese normokaryotypic patients with non-syndromic intellectual disability

言語

eng

キーワード

主題

Array comparative genomic hybridization

キーワード

主題

Intellectual disability

キーワード

主題

Copy number variants

キーワード

主題

Pathogenic gene

キーワード

主題

Clinical finding

資源タイプ

資源タイプ識別子

http://purl.org/coar/resource_type/c_db06

資源タイプ

doctoral thesis

アクセス権

open access

アクセス権URI

http://purl.org/coar/access_right/c_abf2

その他のタイトル

正常核型を有する日本人非症候性知的障害患者55例のゲノムワイドアレイ比較ゲノムハイブリダイゼーション法による解析

著者

Asahina, Miki

書誌情報

en : Journal of Pediatric Neurological Disorders

巻 2, 号 1, p. 108, 発行日 2016-11-07

出版者

OMICS International

言語

権利

言語

権利情報

抄録

内容記述タイプ

Abstract

内容記述

Background: Genomewide array comparative genomic hybridization (aCGH) has widely been utilized as the diagnostic tool in patients with non-syndromic intellectual disability (ID). Indeed, aCGH has identified pathogenic copy number variants (pCNVs), as well as variants of uncertain clinical significance (VsUS) and benign CNVs (bCNVs), in such patients.
Aims: To examine the frequencies of various CNVs and clinical findings in patients with non-syndromic ID.
Patients and methods: We studied 55 Japanese normokaryotypic patients (35 males, 20 females) with apparently non-syndromic ID. Genomewide aCGH was performed using leukocyte genomic DNA samples. Clinical findings were compared among patients with pCNVs (group 1), those with VsUS (group 2), and those with bCNVs or no CNVs (group 3).
Results: Nine patients had pCNVs: one had 5p deletion syndrome, two had 22q11.2 deletion syndrome, one had 17q23.1q23.2 microdeletion syndrome, three had CNVs involving known pathogenic genes, and the remaining two had CNVs overlapping with previously described CNVs in patients with ID (one with duplication at 1q36 and the other with deletion at 12q42). Furthermore, 11 patients had VsUS, and nine patients had bCNVs. Clinical findings were grossly comparable among groups 1-3.
Conclusions: The results provide further support for the usefulness of aCGH in the identification of underlying genetic factor(s) for ID, although there was no clinical finding indicative of the presence of pCNVs or VsUS. Furthermore, our data are expected to serve to identify pathogenic genes on chromosomes 1q36 and 12q42, as well as those on several VsUS.

言語

学位名

博士（医学）

学位の区分

内容記述

doctoral

学位の分野

内容記述

医学系研究科

学位授与機関

学位授与機関識別子Scheme

kakenhi

学位授与機関識別子

13802

学位授与機関名

浜松医科大学

学位授与年月日

2017-03-13

学位授与番号

甲第758号

出版社DOI

識別子タイプ

DOI

Versions

Ver.1

2023-06-20 16:50:06.201520

Show All versions

Cite as

エクスポート

OAI-PMH

JPCOAR 2.0
JPCOAR 1.0
DublinCore
DDI

Other Formats

JSON
BIBTEX

インデックスリンク

インデックスツリー

アイテム

Genomewide array comparative genomic hybridization in 55 Japanese normokaryotypic patients with non-syndromic intellectual disability

× Asahina, Miki

Versions

Share

Cite as

エクスポート