Pariltay, E.Durmaz, A.Durmaz, B.Aykut, A.Onay, H.Ak, H.Aydin, H. H.Özkınay, FerdaCogulu, O.2019-10-272019-10-2720141015-8146https://hdl.handle.net/11454/48614Genome-wide copy number variation analysis in idiopathic intellectual disability/multiple congenital anomalies: New array technologies have facilitated the analysis of submicroscopic chromosomal imbalances and structural variants. Copy number variation (CNV) analysis can reveal genetic imbalances in up to 10 % of cases involving intellectual disability (ID), with or without multiple congenital anomalies (MCA). Here we present 4 cases, diagnosed by CNV analysis using Affymetrix Genome Wide Human SNP 6.0 array, and their parents. CNVs ranging from 18 to 196 per subject, with a size range of 100kb-6093kb, were detected in all cases. One case revealed inherited CNVs, whilst de novo ins/dels were found in the other three which may be causative factors in the development of clinical pictures. Microarray technology may help to reveal the etiology of ID and is a potentially useful diagnostic tool for patients with ID/MCA.eninfo:eu-repo/semantics/closedAccessIntellectual DisabilityMultiple congenital anomaliesMicro arrayArticle252221229WOS:00033875260001425059023N/A