MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation

Subtelomeric rearrangements not visible by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). As the prevalence of MR is high, many patients need to be screened for these chromosomal abnormalities routinely. Multipl...

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Bibliographic Details
Published in:Clinical genetics 2006-03, Vol.69 (3), p.228-233
Main Authors: Palomares, M, Delicado, A, Lapunzina, P, Arjona, D, Amiñoso, C, Arcas, J, Martinez Bermejo, A, Fernández, L, López Pajares, I
Format: Article
Language:English
Subjects:
Adult and adolescent clinical studies
Biological and medical sciences
Chromosome Aberrations
Female
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genetic Testing - methods
Genetics of eukaryotes. Biological and molecular evolution
Humans
idiopathic mental retardation
In Situ Hybridization, Fluorescence - methods
Intellectual deficiency
Intellectual Disability - genetics
Ligase Chain Reaction - methods
Male
Medical genetics
Medical sciences
Microsatellite Repeats
MLPA
Molecular and cellular biology
multiprobe FISH
Psychology. Psychoanalysis. Psychiatry
Psychopathology. Psychiatry
subtelomeric rearrangements
Telomere - genetics
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Summary:Subtelomeric rearrangements not visible by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). As the prevalence of MR is high, many patients need to be screened for these chromosomal abnormalities routinely. Multiplex ligation‐dependent probe amplification (MLPA) is a new technique for measuring sequence dosage, allowing large number of samples to be processed simultaneously and thus significantly reducing laboratory work. We have assessed its performance for the detection of subtelomeric rearrangements by comparing the results with those of our previous multiprobe fluorescence in situ hybridization (FISH) assay. We have tested 50 patients with idiopathic MR, dysmorphic features, congenital malformations, and/or familial history of MR. Our results show a high degree of concordance between the two techniques for the 50 samples tested. On the basis of these results, we conclude that MLPA is a rapid, accurate, reliable, and cost‐effective alternative to FISH for the screening of subtelomeric rearrangements in patients with idiopathic MR.
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2006.00567.x