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Experiences in microarray‐based evaluation of developmental disabilities and congenital anomalies
Author(s) -
Ozyilmaz B.,
Kirbiyik O.,
Koc A.,
Ozdemir T.R.,
Kaya O.O.,
Guvenc M.S.,
Erdoğan K.M.,
Kutbay Y.B.
Publication year - 2017
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12978
Subject(s) - microarray analysis techniques , microarray , phenotype , turkish , genetics , intellectual disability , gene , biology , population , medicine , gene expression , linguistics , philosophy , environmental health
Background 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. Materials and Methods Among 971 patient samples, 133 (13.6%) had pathogenic variants. Results 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. Conclusion 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.