title: Genome-wide copy number variation analysis in idiopathic intellectual disability/multiple congenital anomalies.
abstract: 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.
authors: E
authors: E
authors: Pariltay
authors: A
authors: A
authors: Durmaz
authors: B
authors: B
authors: Durmaz
authors: A
authors: A
authors: Aykut
authors: H
authors: H
authors: Onay
authors: H
authors: H
authors: Ak
authors: H H
authors: HH
authors: Aydin
authors: F
authors: F
authors: Ozkinay
authors: O
authors: O
authors: Cogulu
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D056915:DNA Copy Number Variations / Q000235:genetics*; D005260:Female; D016678:Genome / Q000235:genetics*; D060005:Genotyping Techniques; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male