Publication details
Array CGH characterization of three patients with deletion 22q13
| Authors | |
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| Year of publication | 2010 |
| Type | Conference abstract |
| MU Faculty or unit | |
| Citation | |
| 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). We describe 3 patients including into subtelomeric screening using MLPA technique. In all cases the subtelomeric screening detected the deletion 22q13. In patients 1 and 2, both with normal karyotype, simple terminal deletion was found at 22q13. In patient 3 with no cytogenetic finding, deletion 22q13 and additional duplication of terminal part of 17p were revealed. Aberrations were confirmed by array-CGH. Array-CGH studies also specified position and size of the rearrangements. The current studies have not shown significant relationship between the clinical features and the deletion size, which our study underlined. |
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