Array CGH characterization of three patients with deletion 22q13

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F10%3A00044477" target="_blank" >RIV/00216224:14310/10:00044477 - isvavai.cz</a>

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Array CGH characterization of three patients with deletion 22q13

Popis výsledku v původním jazyce

Subtelomeric chromosomal rearrangements are believed to be a common cause of mental retardation. Their prevalence is about 5-7%. Because of their small size (under 5Mb) these subtelomeric aberrations are undetectable by conventional G-banding method. Thetechnologies such as MLPA, FISH and array-CGH have been adapted for subtelomeric or genomic screening in patients with idiopathic mental retardation. In surveys of subtelomeric screening, deletion of 22q13 is the second most common subtelomeric deletion, after deletion 1p36. The prevalence of 22q13 deletion has not still determinated. The 22q13 Phelan-McDermid deletion syndrome is characterized by mild-to-moderate range of mental retardation, global developmental delay, absent or severely delayed speech, decreased perception of pain and autistic-like affect. Approximately 75% of deletions are simple (terminal or interstitial), about 25% are complex (as a result an unbalanced translocation).

Název v anglickém jazyce

Array CGH characterization of three patients with deletion 22q13

Popis výsledku anglicky

Subtelomeric chromosomal rearrangements are believed to be a common cause of mental retardation. Their prevalence is about 5-7%. Because of their small size (under 5Mb) these subtelomeric aberrations are undetectable by conventional G-banding method. Thetechnologies such as MLPA, FISH and array-CGH have been adapted for subtelomeric or genomic screening in patients with idiopathic mental retardation. In surveys of subtelomeric screening, deletion of 22q13 is the second most common subtelomeric deletion, after deletion 1p36. The prevalence of 22q13 deletion has not still determinated. The 22q13 Phelan-McDermid deletion syndrome is characterized by mild-to-moderate range of mental retardation, global developmental delay, absent or severely delayed speech, decreased perception of pain and autistic-like affect. Approximately 75% of deletions are simple (terminal or interstitial), about 25% are complex (as a result an unbalanced translocation).

Druh

O - Ostatní výsledky

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

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Návaznosti

Z - Vyzkumny zamer (s odkazem do CEZ)

Rok uplatnění

2010

Kód důvěrnosti údajů

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