Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the czech population
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11310%2F11%3A10104952" target="_blank" >RIV/00216208:11310/11:10104952 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/11:9810 RIV/00064165:_____/11:9810
Result on the web
<a href="http://dx.doi.org/10.1089/gtmb.2010.0218" target="_blank" >http://dx.doi.org/10.1089/gtmb.2010.0218</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1089/gtmb.2010.0218" target="_blank" >10.1089/gtmb.2010.0218</a>
Alternative languages
Result language
angličtina
Original language name
Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the czech population
Original language description
Chromosomal aberrations are the most commonly known cause of mental retardation. Standard cytogenetic banding techniques hold resolution limits of 5 - 8 Mb, and thus are not powerful enough to detect chromosomal rearrangements below 5 Mb in size. It is for this reason these types are referred to as "cryptic" rearrangements. Cryptic rearrangements were scanned using the multiplex ligation probe amplification method in a cohort of 64 probands with mental retardation or developmental delays in combinationwith at least one of the following symptoms: hypotonia after birth, congenital anomalies, or face dysmorphisms; but without a positive cytogenetic finding. The study contributes to the knowledge of microdeletion syndromes and helps disclose their naturalphenotypic variability. In total, 10 positives (16 %) were detected, particularly 3 duplications and 6 different deletions, 1 of these in 2 probands. Besides the well-characterized syndromes, less-often described rearrangements with ambi
Czech name
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Czech description
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Classification
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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Result continuities
Project
<a href="/en/project/NS10327" target="_blank" >NS10327: Complex genetic analysis of patients with mental retardation and dysmorphias - establisment of proper diagnostic procedure</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>S - Specificky vyzkum na vysokych skolach
Others
Publication year
2011
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Genetic Testing and Molecular Biomarkers
ISSN
1945-0265
e-ISSN
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Volume of the periodical
15
Issue of the periodical within the volume
9
Country of publishing house
US - UNITED STATES
Number of pages
5
Pages from-to
607-611
UT code for WoS article
000294813900006
EID of the result in the Scopus database
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