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

ABSTRACT: 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.

ORGANISM(S): Homo sapiens

PROVIDER: GSE62439 | GEO | 2014/10/17

SECONDARY ACCESSION(S): PRJNA264096

REPOSITORIES: GEO

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

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

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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

Project description:This SuperSeries is composed of the SubSeries listed below.

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