13q22.1-q32.1微缺失综合征 - Suppr

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超能文献

13q22.1-q32.1 Microdeletion Syndrome.

作者信息

Li Ming-Wei, Zou Xin-Yi, Zou Chao-Chun

机构信息

Children's Hospital, Zhejiang University School of Medicine, 3333 Binsheng Road, Hangzhou, 310051, China.

Zhejiang University School of Medicine, Hangzhou, China.

出版信息

Indian J Pediatr. 2019 Mar;86(3):303-305. doi: 10.1007/s12098-018-2789-7. Epub 2018 Nov 7.

DOI:10.1007/s12098-018-2789-7

PMID:30406597

Abstract

摘要

相似文献

13q22.1-q32.1 Microdeletion Syndrome.13q22.1-q32.1微缺失综合征

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Interstitial deletion of 13q22-q32: a case with choanal atresia and mega-cisterna magna and review of the literature.13q22-q32间质性缺失：1例伴有后鼻孔闭锁和巨大枕大池的病例及文献复习

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Choanal atresia in a patient with the deletion (9p) syndrome.一名患有9号染色体短臂缺失（9p）综合征患者的后鼻孔闭锁。

Am J Med Genet. 1994 Jan 1;49(1):88-90. doi: 10.1002/ajmg.1320490116.

Partial deletion of the long arm of chromosome 13 (q32q33.2) associated with mental retardation, choanal atresia and fish mouth.13号染色体长臂（q32q33.2）部分缺失与智力发育迟缓、后鼻孔闭锁及鱼嘴相关。

Genet Couns. 2010;21(3):317-24.

New dysmorphic syndrome with choanal atresia in siblings.

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Choanal atresia and lymphedema.后鼻孔闭锁和淋巴水肿。

Ann Otol Rhinol Laryngol. 1991 Aug;100(8):661-4. doi: 10.1177/000348949110000812.

Interstitial deletion of distal 13q associated with Hirschsprung's disease.与先天性巨结肠相关的13号染色体长臂远端间质缺失。

J Med Genet. 1989 Feb;26(2):100-4. doi: 10.1136/jmg.26.2.100.

Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome.明显的电荷关联与染色体异常：偶然现象还是相邻基因综合征。

Am J Med Genet. 1991 Nov 1;41(2):246-50. doi: 10.1002/ajmg.1320410223.

Letter regarding the article: "21 Mb deletion in chromosome band 13q22.2-q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features" by Grigori et al.

Eur J Med Genet. 2011 Jul-Aug;54(4):e468; author reply e469. doi: 10.1016/j.ejmg.2011.04.005. Epub 2011 Apr 23.

SNP genotyping to screen for a common deletion in CHARGE syndrome.单核苷酸多态性基因分型用于筛查CHARGE综合征中的常见缺失。

BMC Med Genet. 2005 Feb 14;6:8. doi: 10.1186/1471-2350-6-8.

本文引用的文献

22.5 MB DELETION OF 13q31.1-q34 ASSOCIATED WITH HPE, DWM, AND HSCR: A CASE REPORT AND REDEFINING THE SMALLEST DELETED REGIONS.与前脑无裂畸形、双泡征无脑畸形和先天性巨结肠相关的13q31.1-q34区域22.5兆碱基缺失：一例报告及最小缺失区域的重新定义

Genet Couns. 2016;27(1):43-9.

21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features.13号染色体13q22.2q32.1区域21兆碱基的缺失与轻度/中度精神运动发育迟缓、生长激素缺乏、短颈、小颌畸形、肌张力减退、耳部发育异常及其他畸形特征相关。

Eur J Med Genet. 2011 May-Jun;54(3):365-8. doi: 10.1016/j.ejmg.2011.02.006. Epub 2011 Feb 24.

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.13号染色体长臂缺失的表型及244k芯片比较基因组杂交分析：13q21.1-qter表型图谱的更新

Am J Med Genet A. 2009 May;149A(5):894-905. doi: 10.1002/ajmg.a.32814.

Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature.13号染色体长臂32区“关键区域”的初步定义：14例13q缺失病例报告及文献综述

Am J Med Genet. 1993 Jan 1;45(1):52-9. doi: 10.1002/ajmg.1320450115.

Interstitial deletion of distal 13q associated with Hirschsprung's disease.与先天性巨结肠相关的13号染色体长臂远端间质缺失。

J Med Genet. 1989 Feb;26(2):100-4. doi: 10.1136/jmg.26.2.100.

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