Array CGH characterization of three patients with deletion 22q13

Result code in 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>
Result on the web
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DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Array CGH characterization of three patients with deletion 22q13
Original language 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. 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).
Czech name
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Czech description
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Publication year
2010
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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