Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases

Genetic testing in autism: how much is enough?

“…Deletions involving 1q21.1 have been identified in several probands with congenital heart defects, 46 but may also be a normal copy number variant. 23,47 For this reason, the identification of the genomic rearrangement in this patient was not included in the overall positive yield.…”

“…Further genetic testing is performed based on specific clinical indications, at the discretion of the clinical geneticist evaluating the child (Table 1) and would often include targeted aCGH (SignatureChip ). 23 The SignatureChip detects unbalanced submicroscopic genomic alterations at more than 150 loci, including subtelomeres and known deletions or duplications associated with a clinical phenotype. GAA profiles in plasma and urine, the latter in males only, are obtained to exclude disorders of creatine synthesis.…”

1q21.1 Microduplication expression in adults

“…[17][18][19][20] Other citations involving 1q21.1 duplication cases were also assessed. [21][22][23][24][25][26][27][28][29][30][31][32][33][34] Cases of 1q21.1 duplication in GeneReviews (http://www.ncbi.nlm. nih.gov/books/NBK52787) and the four references provided therein 1,2,10,25 were reviewed as well, but no new subjects or phenotypic data were identified.…”

“…3,35 We systematically reviewed 28 primary reports identified and their accompanying supplemental materials to identify unique individuals and abstract as much information as possible on each subject. 1,2,[5][6][7][8][9][10][11][12][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33][34] Any subjects with 1q21.1 duplications that were not 1.0-5.0 Mb (Figure 1) in size were excluded, 12,31 allowing us to include atypical variants that were larger or smaller than the standard duplication classes used in our analyses. We documented the ascertainment criteria, country of origin, authors, and the demographic, clinical, and genotypic characteristics of subjects in different studies, and used these variables to attempt to identify duplicate cases reported in two or more papers.…”

“…Four studies were excluded because the sources of subjects overlapped with those of other reports and/or the origin of cases was not specified. 17,18,32,34 We compiled data for 107 subjects from the remaining 22 studies 1,2,[5][6][7][8][9][10][11][19][20][21][22][23][24][25][26][27][28][29][30]33 for the main analyses in this report.…”