17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype

Syndromic neurodevelopmental disorders are usually investigated through genetics technologies, within which array comparative genomic hybridization (Array-CGH) is still considered the first-tier clinical diagnostic test. Among recurrent syndromic imbalances, 17q12 deletions and duplications are characterized by neurodevelopmental disorders associated with visceral developmental disorders, although expressive variability is common. Here we describe a case series of 12 patients with 17q12 chromosomal imbalances, in order to expand the phenotypic characterization of these recurrent syndromes whose diagnosis is often underestimated, especially if only mild traits are present. Gene content and genotype-phenotype correlations have been discussed, with special regard to neuropsychiatric features, whose impact often requires etiologic analysis.

Genetic investigation of multicentric glioblastoma multiforme: case report

The authors report a case of multicentric glioblastoma multiforme (GBM) in which all 4 tumor foci were resected and evaluated using both comparative genomic hybridization array and RNA sequencing. Genetic analysis showed that the tumors shared a common origin, although each had its own unique set of genetic aberrations. The authors note that the genetic heterogeneity of multicentric GBM likely contributes to the failures of current treatments. The case underscores the necessity of increased genetic investigation.

Mat-aCGH: a Matlab toolbox for simultaneous multisample aCGH data analysis and visualization

Mat-aCGH is an application toolbox for analysis and visualization of microarray-comparative genomic hybridization (array-CGH or aCGH) data which is based on Matlab. Full process of aCGH analysis, from denoising of the raw data to the visualization of the desired results, can be obtained via Mat-aCGH straight-forwardly. The main advantage of this toolbox is that it is collection of recent well-known statistical and information theoretic methods and algorithms for analyzing aCGH data. More importantly, the proposed toolbox is developed for multisample analysis which is one of the current challenges in this area. Mat-aCGH is convenient to apply for any format of data, robust against diverse noise and provides the users with valuable information in the form of diagrams and metrics. Therefore, it eliminates the needs of another software or package for multisample aCGH analysis.

Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects

Despite considerable advances in the detection of genomic abnormalities in congenital heart disease (CHD), the etiology of CHD remains largely unknown. CHD is the most common birth defect and is a major cause of infant morbidity and mortality, and conotruncal defects constitute 20% of all CHD cases. We used array comparative genomic hybridization (array-CGH) to retrospectively study 60 subjects with conotruncal defects and identify genomic imbalances. The DNA copy number variations (CNVs) detected were matched with data from genomic databases, and their clinical significance was evaluated. We found that 38.3% (23/60) of CHD cases possessed genomic imbalances. In 8.3% (5/60) of these cases, the imbalances were causal or potentially causal CNVs; in 8.3% (5/60), unclassified CNVs were identified; and in 21.6% (13/60), common variants were detected. Although the interpretation of the results must be refined and there is not yet a consensus regarding the types of CHD cases in which array-CGH should be used as a first-line test, the identification of these CNVs can assist in the evaluation and management of CHD. The results of such studies emphasize the growing importance of the use of genome-wide assays in subjects with CHD to increase the number of genomic data sets associated with this condition.