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

Autor:	B, Ozyilmaz, O, Kirbiyik, A, Koc, T R, Ozdemir, O O, Kaya, M S, Guvenc, K M, Erdoğan, Y B, Kutbay
Rok vydání:	2016
Předmět:	Chromosome Aberrations DNA Copy Number Variations Turkey Developmental Disabilities Humans Microarray Analysis Congenital Abnormalities
Zdroj:	Clinical genetics. 92(4)
ISSN:	1399-0004
Popis:	Chromosomal 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.Among 971 patient samples, 133 (13.6%) had pathogenic variants.While 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.With 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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::a70743a8421666c6b56453d343997b47 https://pubmed.ncbi.nlm.nih.gov/28128450 Zobrazit plný text záznamu Plný text