About: Array CGH characterization of three patients with deletion 22q13

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	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. The technologies 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). 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. The technologies 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). (en)
Title	Array CGH characterization of three patients with deletion 22q13 Array CGH characterization of three patients with deletion 22q13 (en)
skos:prefLabel	Array CGH characterization of three patients with deletion 22q13 Array CGH characterization of three patients with deletion 22q13 (en)
skos:notation	RIV/00216224:14310/10:00044477!RIV11-MSM-14310___
http://linked.open...avai/riv/aktivita	Z
http://linked.open...avai/riv/aktivity	Z(MSM0021622415)
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Hladílková, Eva Gaillyová, Renata Vranová, Vladimíra Kuglík, Petr Oltová, Alexandra
http://linked.open.../riv/druhVysledku	O - Ostatní výsledky nezařaditelné do žádného z výše uvedených druhů výsledku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Přírodovědecká fakulta
http://linked.open...dnocenehoVysledku	247749
http://linked.open...ai/riv/idVysledku	RIV/00216224:14310/10:00044477
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	array-CGH mental retardation deletion 22q13 (en)
http://linked.open.../riv/klicoveSlovo	array-CGH mental retardation deletion 22q13
http://linked.open...ontrolniKodProRIV	[F4059F66B1A3]
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	5 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...UplatneniVysledku	2010
http://linked.open...iv/tvurceVysledku	Gaillyová, Renata Kuglík, Petr Slámová, Iva Vranová, Vladimíra Oltová, Alexandra Zrnová, Eva
http://linked.open...n/vavai/riv/zamer	Molecular basis of cell and tissue regulations
http://localhost/t...ganizacniJednotka	14310

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