A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10293014" target="_blank" >RIV/00064203:_____/14:10293014 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/14:10293014
Result on the web
<a href="http://dx.doi.org/10.1186/1755-8166-7-51" target="_blank" >http://dx.doi.org/10.1186/1755-8166-7-51</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1186/1755-8166-7-51" target="_blank" >10.1186/1755-8166-7-51</a>

Result language
angličtina
Original language name
A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications
Original language description
Background: Inversions are balanced structural chromosome rearrangements, which can influence gene expression and the risk of unbalanced chromosome constitution in offspring. Many examples of inversion polymorphisms exist in human, affecting both heterochromatic regions and euchromatin. Results: We describe a novel, 15 Mb long paracentric inversion, inv(21)(q21.1q22.11), affecting more than a third of human 21q. Despite of its length, the inversion cannot be detected using karyotyping due to similar band patterns on the normal and inverted chromosomes, and is therefore likely to escape attention. Its identification was aided by the repeated observation of the same pair of 150 kb long duplications present in cis on chromosome 21 in three Czech familiessubjected to microarray analysis. The finding prompted us to hypothesise that this co-occurrence of two remote duplications could be associated with an inversion of the intervening segment, and this speculation turned out to be right. The
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
EB - Genetics and molecular biology
OECD FORD branch
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Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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