Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the czech population

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11110/11:9810 RIV/00064165:_____/11:9810

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the czech population

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the czech population

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

<a href="/cs/project/NS10327" target="_blank" >NS10327: Komplexní genetická analýza u pacientů s mentální retardací a dysmorfiemi - stanovení vhodného diagnostického postupu</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>S - Specificky vyzkum na vysokych skolach

Rok uplatnění

2011

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Genetic Testing and Molecular Biomarkers

ISSN

1945-0265

e-ISSN

—

Svazek periodika

15

Číslo periodika v rámci svazku

9

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

5

Strana od-do

607-611

Kód UT WoS článku

000294813900006

EID výsledku v databázi Scopus

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