Experiences in microarray-based evaluation of developmental disabilities and congenital anomalies

被引：8
|
作者：
Ozyilmaz, B. [1 ]
Kirbiyik, O. [1 ]
Koc, A. [1 ]
Ozdemir, T. R. [1 ]
Kaya, O. O. [1 ]
Guvenc, M. S. [1 ]
Erdogan, K. M. [1 ]
Kutbay, Y. B. [1 ]
机构：
[1] Izmir Tepecik Educ & Res Hosp, Dept Med Genet, Izmir, Turkey
来源：
CLINICAL GENETICS | 2017年 / 92卷 / 04期
关键词：
CNV; microarray; microdeletion; microduplication; optima; pathogenic; Turkish; VOUS; ZNF107; HUMAN GENOME; NUMBER; MAP;
D O I：
10.1111/cge.12978
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
BackgroundChromosomal microarray analysis is the first-tier test for the evaluation of developmental disabilities and congenital anomalies. In this report, we present CMA results of 971 patient and 301 parent samples. Materials and MethodsAmong 971 patient samples, 133 (13.6%) had pathogenic variants. ResultsWhile analyzing, an in-house variant database was also used besides other databases. Owing to this, we have found chance to report the most frequent benign variants in Turkish population. ConclusionWith the additional data we acquired in this study, we also emphasized the high potential of CMA in revealing single gene disorders and novel gene-phenotype associations as well as copy number variations.
引用
收藏
页码：372 / 379
页数：8
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