Identification of microdeletion and microduplication syndromes by chromosomal microarray in patients with intellectual disability with dysmorphism

Panigrahi Inusha; Jain Puneet; Didel Siyaram; Agarwal Sarita; Muthuswamy Srinivasan; Saha Ansuman; Kulkarni Vinay

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Identification of microdeletion and microduplication syndromes by chromosomal microarray in patients with intellectual disability with dysmorphism

机译：疑难解失用患者染色体微阵列鉴定微缺失性和微量综合综合征

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Background: A retrospective analysis using chromosomal microarray in syndromic patients with intellectual disability from genetic clinics of a tertiary healthcare center in India was conducted.

机译：背景：采用印度三级医疗中心遗传诊所患有智力诊断患者的综合征患者的回顾性分析。

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来源
《Neurology India.》 |2018年第5期|共7页
作者
Panigrahi Inusha; Jain Puneet; Didel Siyaram; Agarwal Sarita; Muthuswamy Srinivasan; Saha Ansuman; Kulkarni Vinay;
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作者单位

Post Grad Inst Med Educ &

Res Genet &

Metab Unit Dept Pediat Adv Pediat Ctr Chandigarh 160012;

Post Grad Inst Med Educ &

Res Genet &

Metab Unit Dept Pediat Adv Pediat Ctr Chandigarh 160012;

Post Grad Inst Med Educ &

Res Genet &

Metab Unit Dept Pediat Adv Pediat Ctr Chandigarh 160012;

Sanjay Gandhi Postgrad Inst Med Sci Dept Genet Lucknow Uttar Pradesh India;

Sanjay Gandhi Postgrad Inst Med Sci Dept Genet Lucknow Uttar Pradesh India;

Post Grad Inst Med Educ &

Res Genet &

Metab Unit Dept Pediat Adv Pediat Ctr Chandigarh 160012;

Post Grad Inst Med Educ &

Res Genet &

Metab Unit Dept Pediat Adv Pediat Ctr Chandigarh 160012;

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原文格式 PDF
正文语种 eng
中图分类神经病学与精神病学;
关键词
Chromosomal microarray; chromosomal microdeletion; DiGeorge syndrome; FISH; Kleefestra syndrome; Prader-Willi syndrome; SNP array;

机译：染色体微阵列;染色体微缺失;Digegor综合征;鱼;Kleefestra综合征;Prader-Willi综合征;SNP阵列;

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专利

1. Identification of microdeletion and microduplication syndromes by chromosomal microarray in patients with intellectual disability with dysmorphism [J] . Inusha Panigrahi, Puneet Jain, Siyaram Didel, Neurology India . 2018,第5期

机译：通过染色体微阵列鉴定智障型智障患者的微缺失和微复制综合征
2. A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach [J] . Irene Plaza Pinto, Lysa Bernardes Minasi, Alex Silva da Cruz, Molecular cytogenetics . 2014,第1期

机译：使用染色体微阵列分析方法检测到与7q和18p的从头微缺失，Xp的微复制和18q的部分三体性相关的非综合征性智力障碍
3. A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach [J] . Irene Plaza Pinto, Lysa Bernardes Minasi, Alex Silva da Cruz, Molecular cytogenetics . 2014,第1期

机译：使用染色体微阵列分析方法检测到与7q和18p的从头微缺失，Xp的微复制和18q的部分三体性相关的非综合征性智力障碍
4. An intelligent web-based system for the detection and visualization of biomarkers in Microdeletion and Microduplication Syndromes [C] . Konstantinos Stefanou, Christos Bellos, Georgios Stergios, IEEE International Conference on Bioinformatics and Bioengineering . 2020

机译：基于智能网络的系统，用于检测和可视化微缺失和微杂皮综合征中的生物标志物
5. Molecular Genetic Study of Autism and Intellectual Disability Genes on the X-Chromosome. [D] . Noor, Abdul. 2012

机译：X染色体上自闭症和智力障碍基因的分子遗传学研究。
6. A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p microduplication at Xp and 18q partial trisomy detected using chromosomal microarray analysis approach [O] . Irene Plaza Pinto, Lysa Bernardes Minasi, Alex Silva da Cruz, 2014

机译：使用染色体微阵列分析方法检测到与7q和18p从头微缺失Xp上的微复制和18q部分三体性相关的非综合征性智力障碍
7. A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach [O] . Irene Pinto, Lysa Minasi, Alex da Cruz, 2014

机译：使用染色体微阵列分析方法检测到与7q和18p从头微缺失，Xp上的微复制和18q部分三体性相关的非综合征性智力障碍

Identification of microdeletion and microduplication syndromes by chromosomal microarray in patients with intellectual disability with dysmorphism

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