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Application of CGH-array and SNP-array for the detection of genomic rearrangements responsible for sindromic mental retardation of unknown cause

ABSTRACT: This SuperSeries is composed of the SubSeries listed below.

ORGANISM(S): Homo sapiens

PROVIDER: GSE62440 | GEO | 2014/10/17

SECONDARY ACCESSION(S): PRJNA264094

REPOSITORIES: GEO

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Application of array-CGH for the detection of genomic rearrangements responsible for syndromic mental retardation of unknown cause

2014-05-22 | GSE57899 | GEO

Application of CGH-array for the detection of genomic rearrangements responsible for sindromic mental retardation of unknown cause

Project description:Developmental delay/intellectual disability (DD/ID)affects 2% of our population. However, most patients are often left without aspecific diagnosis,with the corresponding consequences for the patients and their families. The application of microarray technology in the study of patients with DD/ID allows whole-genome analysis with a high resolutionand performance. Here we present the results of four cases included in a series of 246 patients with DD/ID, as part of the screening of the genetic causes responsible for their phenotype.

2014-10-17 | GSE62439 | GEO

Application of SNP-array for the detection of genomic rearrangements responsible for sindromic mental retardation of unknown cause

Project description:Developmental delay/intellectual disability (DD/ID)affects 2% of our population. However, mostpatients are often leftwithout aspecific diagnosis,with thecorresponding consequences for the patientsand their families. The application of microarray technology in the study of patients with DD/ID allows whole-genome analysis with a high resolutionand performance. Here we present the results of a case included in a series of 246 patients with DD/ID, as part of the screening of the genetic causes responsible for their phenotype.

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Application of array-CGH for the detection of genomic rearrangements responsible for syndromic mental retardation of unknown cause

Project description:Here we describe an interstitial pure duplication of 19p13.3 that was initially considered as a de novo alteration, in a patient with intellectual disability studied by array-CGH. The finding of the same chromosomal alteration in a first-degree cousin of this patient led us to investigate the presence of insertional translocations. An intrachromosomal insertional translocation was found in at least three generations. Three intellectually disabled patients with the same duplication and multiples abortions among translocation carrier family members were found. A review of other published cases has allowed us to find three other cases with a similar pure duplication and some clinical findings present in all patients as intrauterine growth retardation, microcephaly, motor and speech delay, moderate to severe intellectual disability and dysmorphic features. These findings allow us to suggest the existence of a new microduplication syndrome in chromosomal region 19p13.3. Whole genome array-CGH was performed on Agilent oligo-chip 44K (human genome CGH microarray G4410B from Agilent Technologies, Palo Alto, CA) as recommended. The patientsM-bM-^@M-^Y DNA samples were tested against a pool of 10 sex-matched normal DNA samples, all of them (patients and normal controls) from our geographical area. Scanned images were quantified using Agilent Feature Extraction Software (v9.0). The results were analyzed using Agilent Genomic Workbench software. Annotations have been obtained from UCSC (http://genome.ucsc.edu) based on human genome build GRCh37/hg19.

2014-05-22 | E-GEOD-57899 | biostudies-arrayexpress

Application of SNP-array for the detection of genomic rearrangements responsible for sindromic mental retardation of unknown cause

Project description:Developmental delay/intellectual disability (DD/ID)affects 2% of our population. However, mostpatients are often leftwithout aspecific diagnosis,with thecorresponding consequences for the patientsand their families. The application of microarray technology in the study of patients with DD/ID allows whole-genome analysis with a high resolutionand performance. Here we present the results of a case included in a series of 246 patients with DD/ID, as part of the screening of the genetic causes responsible for their phenotype. SNP-array was performed on Genome-Wide Human SNP_6 (Affymetrix) as recommended by the manufacter. Analysis was performed with Affymetrix reference profile 'GenomeWideSNP_6.hapmap270.na31.r1.a5.ref'.

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Use of array CGH in the diagnosis of patients with mental retardation

Project description:This series represent the data set belonging to the publication by de Vries et al. Diagnostic genome profiling in mental retardation. American Journal of Human Genetics, vol 77: 606-616 (2005). In this study 100 patients with unexplained mental retardation were analyzed for DNA copy-number changes using a tiling-resolution genomewide microarray containing 32,447 BACs. Keywords: CGH

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Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

Project description: Not available

| S-EPMC2563232 | biostudies-literature

High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results.

Project description: Not available

| S-EPMC3523000 | biostudies-literature

Microarray CGH (aCGH) analysis of a patient with Mental Retardation (MR)

Project description:Background: Mental Retardation occurs with the prevalence of 2%-3% of general population. Molecular karyotyping by 1-Mb resolution microarray revealed that pathological genomic imbalances were found in 14%-20% of MR. Aim: The aim of this study is to find the submicroscopic rearrangements in patient with MR using the custom BAC microarray (probe spacing at 0.75 Mb throughout the human genome). Conclusion: We identified approximate 2.0-Mb deletion on 9q33.3-q34.11 in a female with MR (Patient 1). Keywords: array CGH

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