Array comparative genome hybridization in patients with developmental delay: two example cases

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F12%3A8047" target="_blank" >RIV/00064203:_____/12:8047 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/12:8047
Result on the web
<a href="http://dx.doi.org/10.1016/j.nbt.2010.10.006" target="_blank" >http://dx.doi.org/10.1016/j.nbt.2010.10.006</a>
DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Array comparative genome hybridization in patients with developmental delay: two example cases
Original language description
Developmental delay is often a predictor of mental retardation (MR) or autism, two relatively frequent developmental disorders severely affecting intellectual and social functioning. The causes of these conditions remain unknown in most patients. They have a strong genetic component, but the specific genetic defects can only be identified in a fraction of patients. Recent developments in genomics supported the establishment of the causal link between copy number variants in the genomes of some patientsand their affection. One of the techniques suitable for this analysis is array comparative genome hybridization, which can be used both for detailed mapping of chromosome rearrangements identified by classical cytogenetics and for the identification of novel submicroscopic gains or losses of genetic material. We illustrate the power of this approach in two patients. Patient 1 had a cytogenetically visible deletion of chromosome X and the molecular analysis was used to specify the gene co
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
CE - Biochemistry
OECD FORD branch
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Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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