6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development.

Gohring I; Blumlein HM; Hoyer J

首页> 外文期刊>European journal of medical genetics >6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development.

【24h】

6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development.

机译：染色体带11q24.2q25中的6.7 Mb间质重复与不育，轻微畸形和正常的精神运动发育有关。

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

We report on a healthy man with high normal intelligence, minor dysmorphic features and infertility due to hypogonadism and azoospermia. Cytogenetic analysis showed a 6.7Mb duplication in chromosome band 11q24.2q25, which could be confirmed with FISH and molecular karyotyping using an Affymetrix GeneChip Human Mapping 250K Nsp SNP array.

机译：我们报告了一个健康的人，由于性腺功能减退和无精子症，其正常智力高，轻微的畸形特征和不孕。细胞遗传学分析显示，在11q24.2q25染色体带中存在6.7Mb的重复，可以通过AISH和250K Nsp SNP Affymetrix GeneChip Human Mapping进行的FISH和分子核型分析确认。

著录项

来源
《European journal of medical genetics》 |2008年第6期|共6页
作者
Gohring I; Blumlein HM; Hoyer J;
展开▼
作者单位

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词

相似文献

外文文献
中文文献

1. 6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development. [J] . Gohring I, Blumlein HM, Hoyer J European journal of medical genetics . 2008,第6期

机译：染色体带11q24.2q25中的6.7 Mb间质重复与不育，轻微畸形和正常的精神运动发育有关。
2. 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. [J] . Bremer A, Schoumans J, Nordenskjold M European journal of medical genetics . 2009,第5期

机译：6p22.3染色体带中7.1Mb的间质缺失与发育延迟和畸形特征有关，包括心脏缺陷，短颈和眼睛异常。
3. Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features. [J] . Piccione M, Antona V, Antona R, American journal of medical genetics, Part A . 2010,第2期

机译：Array-CGH定义患者患者中的染色体1P重复，轻度心理缺乏和轻微的疑风特征。
4. Automatic Determination of The G-band Chromosomes Number based on Geometric Features [C] . Kanuengnij Kubola, Pichet Wayalun International Joint Conference on Computer Science and Software Engineering . 2018

机译：基于几何特征自动确定G带染色体数
5. Simultaneous de novo interstitial deletion of 16q21 and intercalary duplication of 19q in a retarded infant with minor dysmorphic features. [O] . U Trautmann, R A Pfeiffer, U Seufert-Satomi, 1993

机译：在具有轻微畸形特征的发育迟缓婴儿中同时进行从头开始的16q21间隙删除和19q的插入重复。
6. Simultaneous de novo interstitial deletion of 16q21 and intercalary duplication of 19q in a retarded infant with minor dysmorphic features. [O] . U Trautmann, R A Pfeiffer, U Seufert-Satomi, 1993

机译：同时缺乏新缺陷婴幼儿16季度16季度16季度16季度的闰复制，令人轻松的疑难解因。
7. 1.3 Mb de novo Deletion in Chromosome Band 3q29 Associated with Normal Intelligence in a Child [R] . Cobb, W., Anderson, A., Turner, C., 2010

机译：染色体带3q29中的1.3 mb de novo缺失与儿童的正常智力相关

6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development.

摘要

著录项

相似文献

相关主题

期刊订阅