• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

3q25染色体缺失综合征或黏多糖贮积症IIIB的病例报告。

Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB.

作者信息

Chang Yu-Tzu, Wang Chung-Hsing, Chou I-Ching, Lin Wei-De, Chee Siew-Yin, Kuo Huang-Tsung, Tsai Fuu-Jen

机构信息

Division of Pediatric Neurology, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan ; China Medical University, Taichung, Taiwan.

Division of Pediatric Genetics and Metabolism, Children's Medical Center, Taichung, Taiwan ; Graduate Institute of Clinical Medical Science, China Medical University, Taichung, Taiwan.

出版信息

Biomedicine (Taipei). 2014;4(1):7. doi: 10.7603/s40681-014-0007-0. Epub 2014 Aug 6.

DOI:10.7603/s40681-014-0007-0
PMID:25520920
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4264972/
Abstract

Interstitial deletions of the long arm of chromosome 3 have, to our knowledge, been reported in only eleven patients; detailed genotype- phenotype correlations are not well established. Here we describe a case with interstitial deletion involving 3q25.33 region. Dysmorphic features and developmental delay lead to clinical genetic and enzyme assessment. Low alpha-hexosaminidase level is also noted, which imply Mucopolysaccharidosis(MPS) IIIB.

摘要

据我们所知，3号染色体长臂的间质缺失仅在11例患者中被报道；详细的基因型-表型相关性尚未明确建立。在此，我们描述了一例涉及3q25.33区域间质缺失的病例。畸形特征和发育迟缓促使进行临床遗传学和酶学评估。还注意到α-己糖胺酶水平较低，这提示黏多糖贮积症（MPS）IIIB型。

相似文献

1
Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB.3q25染色体缺失综合征或黏多糖贮积症IIIB的病例报告。
Biomedicine (Taipei). 2014;4(1):7. doi: 10.7603/s40681-014-0007-0. Epub 2014 Aug 6.
2
Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.一名患有3q25.1-q25.32区域8.9 Mb新发间质性缺失的儿童出现发育迟缓及面部畸形：3q25缺失综合征的基因型-表型相关性
Eur J Med Genet. 2011 Mar-Apr;54(2):177-80. doi: 10.1016/j.ejmg.2010.11.011. Epub 2010 Dec 15.
3
Delineation of a recognisable phenotype of interstitial deletion 3 (q22.3q25.1) in a case with previously unreported truncus arteriosus.在一例患有此前未报告的共同动脉干且存在3号染色体间质缺失（q22.3q25.1）的病例中明确可识别的表型。
Eur J Med Genet. 2010 May-Jun;53(3):162-7. doi: 10.1016/j.ejmg.2010.02.008. Epub 2010 Mar 6.
4
Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype.3号染色体长臂间质性缺失：病例报告、综述及表型定义
Am J Med Genet. 1987 Aug;27(4):781-6. doi: 10.1002/ajmg.1320270406.
5
An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.6号染色体p22.3带7.1兆碱基的间质缺失与发育迟缓及畸形特征相关，包括心脏缺陷、短颈和眼部异常。
Eur J Med Genet. 2009 Sep-Oct;52(5):358-62. doi: 10.1016/j.ejmg.2009.06.002. Epub 2009 Jul 1.
6
Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.病例报告：一名女孩患亨特综合征（II型黏多糖贮积症）的罕见病例。
BMC Med Genet. 2019 May 2;20(1):66. doi: 10.1186/s12881-019-0807-x.
7
A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics.一名发育迟缓并伴有轻度畸形特征的儿童，其13q12.11处存在一个2.9Mb的新生间质性缺失。
Mol Cytogenet. 2014 Dec 3;7(1):92. doi: 10.1186/s13039-014-0092-5. eCollection 2014.
8
Wisconsin syndrome with brain volume laterality: a case report and review of the literature.威斯康星综合征伴脑容量偏侧性：病例报告及文献复习。
J Med Case Rep. 2022 Apr 16;16(1):153. doi: 10.1186/s13256-022-03332-8.
9
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.ⅢA型和ⅢB型黏多糖贮积症的分子遗传学：诊断、临床及生物学意义
Hum Mutat. 2001 Oct;18(4):264-81. doi: 10.1002/humu.1189.
10
Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.因4q27-q28.1微缺失导致身材矮小、发育迟缓及畸形特征的多代家族。
Eur J Med Genet. 2013 Sep;56(9):521-5. doi: 10.1016/j.ejmg.2013.07.004. Epub 2013 Jul 26.

引用本文的文献

1
Copy number variant analysis for syndromic congenital heart disease in the Chinese population.对中国人群综合征性先天性心脏病的拷贝数变异分析。
Hum Genomics. 2022 Oct 31;16(1):51. doi: 10.1186/s40246-022-00426-8.
2
Wisconsin syndrome with brain volume laterality: a case report and review of the literature.威斯康星综合征伴脑容量偏侧性：病例报告及文献复习。
J Med Case Rep. 2022 Apr 16;16(1):153. doi: 10.1186/s13256-022-03332-8.

本文引用的文献

1
Hyperactivity, unexplained speech delay, and coarse facies--is it Sanfilippo syndrome?多动、不明原因的语言发育迟缓及粗糙面容——这是桑菲利波综合征吗？
J Child Neurol. 2014 Aug;29(8):NP9-12. doi: 10.1177/0883073813491627. Epub 2013 Jun 12.
2
Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder.单体型结构可优先考虑自闭症谱系障碍的常见标记物和候选基因。
Transl Psychiatry. 2013 May 28;3(5):e262. doi: 10.1038/tp.2013.38.
3
"Donohue syndrome".“多纳休综合征”
J Clin Endocrinol Metab. 2012 May;97(5):1416-7. doi: 10.1210/jc.2011-3215. Epub 2012 Mar 7.
4
Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.一名患有3q25.1-q25.32区域8.9 Mb新发间质性缺失的儿童出现发育迟缓及面部畸形：3q25缺失综合征的基因型-表型相关性
Eur J Med Genet. 2011 Mar-Apr;54(2):177-80. doi: 10.1016/j.ejmg.2010.11.011. Epub 2010 Dec 15.
5
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.黏多糖贮积症 IIIB 型可能主要表现为临床表型较轻。
J Inherit Metab Dis. 2010 Dec;33(6):759-67. doi: 10.1007/s10545-010-9199-y. Epub 2010 Sep 18.
6
Delineation of a recognisable phenotype of interstitial deletion 3 (q22.3q25.1) in a case with previously unreported truncus arteriosus.在一例患有此前未报告的共同动脉干且存在3号染色体间质缺失（q22.3q25.1）的病例中明确可识别的表型。
Eur J Med Genet. 2010 May-Jun;53(3):162-7. doi: 10.1016/j.ejmg.2010.02.008. Epub 2010 Mar 6.
7
Delineation of the proximal 3q microdeletion syndrome.近端3q微缺失综合征的描绘
Am J Med Genet A. 2008 Jul 1;146A(13):1729-35. doi: 10.1002/ajmg.a.32292.
8
Wisconsin syndrome in a patient with interstitial deletion of the long arm of chromosome 3: further delineation of the phenotype.一名3号染色体长臂间质性缺失患者的威斯康星综合征：对表型的进一步描述。
Am J Med Genet A. 2003 Jul 30;120A(3):413-7. doi: 10.1002/ajmg.a.20149.
9
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.ⅢA型和ⅢB型黏多糖贮积症的分子遗传学：诊断、临床及生物学意义
Hum Mutat. 2001 Oct;18(4):264-81. doi: 10.1002/humu.1189.
10
De novo interstitial long arm deletion of chromosome 3 with facial dysmorphism, Dandy-Walker variant malformation and hydrocephalus.3号染色体长臂新发间质性缺失伴面部畸形、Dandy-Walker变异型畸形和脑积水。
Clin Dysmorphol. 2001 Jul;10(3):193-6. doi: 10.1097/00019605-200107000-00008.