Cryptic chromosome rearrangements in five patients, with normal and/or abnormal karyotypes, associated with mental retardation, autism and/or epilepsy, detected by BAC genome array-CGH
Language English Country Czech Republic Media print
Document type Case Reports, Journal Article
PubMed
23249659
DOI
10.14712/23362936.2015.11
PII: PMR2012A0029
Knihovny.cz E-resources
- MeSH
- Autistic Disorder complications genetics MeSH
- Chromosome Aberrations * MeSH
- Child MeSH
- Epilepsy complications genetics MeSH
- Humans MeSH
- Intellectual Disability complications genetics MeSH
- Adolescent MeSH
- Child, Preschool MeSH
- Comparative Genomic Hybridization * MeSH
- Chromosomes, Artificial, Bacterial * MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
This report describes the usefulness of the BAC genome array-CGH platform in the detection of cryptic rearrangements. We examined ten patients with normal and/or abnormal karyotypes and dysmorphic features, associated with mental retardation, autism and/or epilepsy. This approach led us to discover further cryptic chromosomal rearrangements, not previously detected by conventional cytogenetic procedures, and allowed us to better delineate genotype/phenotype correlation. Our experience shows the validity of the BAC platform as a reliable method for genome-wide screening of chromosomal aberrations in patient with idiopathic mental retardation and/or in association with autism and epilepsy.
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