Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.
Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.
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DOI：
10.1007/s13353-013-0181-x
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发表时间：
2014-02
影响因子：
2.4
通讯作者：
Stankiewicz, Pawel
中科院分区：
文献类型：
--
作者：
Bartnik, Magdalena;Nowakowska, Beata;Derwinska, Katarzyna;Wisniowiecka-Kowalnik, Barbara;Kedzior, Marta;Bernaciak, Joanna;Ziemkiewicz, Kamila;Gambin, Tomasz;Sykulski, Maciej;Bezniakow, Natalia;Korniszewski, Lech;Kutkowska-Kazmierczak, Anna;Klapecki, Jakub;Szczaluba, Krzysztof;Shaw, Chad A.;Mazurczak, Tadeusz;Gambin, Anna;Obersztyn, Ewa;Bocian, Ewa;Stankiewicz, Pawel
我们使用全基因组外显子靶向寡核苷酸阵列比较基因组杂交（阵列CGH）在一个队列的256例发育迟缓（DD）/智力残疾（ID）有或没有畸形特征，额外的神经发育异常，和/或先天性畸形。在69例患者中，我们确定了84个非多态性拷贝数变异，其中41个已知与临床相关，包括两个最近描述的缺失，4q21.21q21.22和17q24.2。染色体微阵列分析也揭示了15个潜在的致病性变化，包括三个罕见的缺失，5q35.3，10q21.3和13q12.11。此外，我们发现了28个未知临床意义的拷贝数变异。我们的研究结果进一步支持的概念，即拷贝数变异显着有助于DD/ID的遗传病因，并强调了新的候选基因的检测神经发育障碍的全基因组阵列CGH的功效。本文的在线版本（doi：10.1007/s13353-013-0181-x）包含补充材料，可供授权用户使用。
We used whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) in a cohort of 256 patients with developmental delay (DD)/intellectual disability (ID) with or without dysmorphic features, additional neurodevelopmental abnormalities, and/or congenital malformations. In 69 patients, we identified 84 non-polymorphic copy-number variants, among which 41 are known to be clinically relevant, including two recently described deletions, 4q21.21q21.22 and 17q24.2. Chromosomal microarray analysis revealed also 15 potentially pathogenic changes, including three rare deletions, 5q35.3, 10q21.3, and 13q12.11. Additionally, we found 28 copy-number variants of unknown clinical significance. Our results further support the notion that copy-number variants significantly contribute to the genetic etiology of DD/ID and emphasize the efficacy of the detection of novel candidate genes for neurodevelopmental disorders by whole-genome array CGH. The online version of this article (doi:10.1007/s13353-013-0181-x) contains supplementary material, which is available to authorized users.
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影响因子：
9.8
作者：
Friedman, J. M.;Baross, Agnes;Marra, Marco A.
通讯作者：
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DOI：
10.1002/ajmg.b.32020
发表时间：
2012-03-01
影响因子：
2.8
作者：
Derwinska, Katarzyna;Mierzewska, Hanna;Stankiewicz, Pawel
通讯作者：
Stankiewicz, Pawel
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通讯作者：
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作者：
Huang N;Lee I;Marcotte EM;Hurles ME
通讯作者：
Hurles ME