Naslov
MLPA as a screening method for the detection of cryptic subtelomeric rearrangements in patients with idiopathic mental retardation

Autori
Morožin Pohovski, Leona ; Sansović, Ivona ; Barišić, Ingeborg

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, ostalo

Izvornik
European Journal of Human Genetics. Supplement 2 / - : Nature publishing group, 2008, 123-123

Skup
European Human Genetics Conference

Mjesto i datum
Barcelona, Španjolska, 31.05.2008. - 03.06.2008

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
mentalna retardacija; subtelomerne regije; MLPA
(mental retardation; subtelomeric regions; MLPA)

Sažetak
Submicroscopic chromosomal rearrangements involving the subtelomere regions are considered to be a significant cause of idiopathic mental reardation (MR).The Multiplex Ligation dependent Probe Amplification (MLPA) is has increasingly been used as an adjunct to routine cytogenetic testing and a relatively low cost and high throughput screening for the detection of small rearangements. Objective: To screen for submicroscopic subtelomeric aberrations by MLPA method.Results: We have studied a series of 50 unselected patients with mental retardation and negative chromosomal analysis. The MLPA with SALSA P036C and SALSA P070 probe mixes was performed for subelomere screening.Unbalanced chromosomal rearrangements detected by MLPA were confirmed by quantitative fluorescent PCR (QF-PCR).The MLPA screening revealed chromosome aberrations in two (4%) cases: one patient with terminal deletion in the long armof chromosome 22 and one case with double subtelomerric aberration consisting of a 12p deletion associated with 22q duplication. Conclusion: MLPA screening is a fast , sensitive and cost-effective technique for screening idiopathic mentally retarted patients with normal karyotype. Validation by another cytogenetic or molecular method is still needed for use in routine diagnostic.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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