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Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)
- Source :
- Human mutation
- Publication Year :
- 2004
-
Abstract
- Subtelomeric rearrangements are responsible for 5% to 10% of cases of unexplained mental retardation. Despite their clinical relevance, methods to screen for these cytogenetically invisible abnormalities on a routine base are scarce. We screened patients with idiopathic mental retardation for subtelomeric aberrations using multiplex ligation-dependent probe amplification (MLPA). This recently developed technique is based on PCR amplification of ligated probes hybridized to chromosome ends. Currently, 41 telomeres can be screened in just two multiplex reactions. Four subtelomeric rearrangements (5.3%) were detected in a group of 75 patients with mild to severe mental retardation in combination with dysmorphic features and/or a familial history of mental retardation: two terminal 1p deletions, a terminal 1q deletion, and a terminal 3p deletion. Deletions could be verified by FISH and marker analysis. In one case the MLPA indicated a terminal 21q deletion due to a 3-bp deletion at the site of the probe, giving a false-positive rate of 1.3%. This study demonstrates that MLPA is a fast and reliable screening method, potentially suitable for use in routine diagnostics. Hum Mutat 23:17–21, 2004. © 2003 Wiley-Liss, Inc.
- Subjects :
- Adult
Male
Adolescent
Marker analysis
Biology
Polymerase Chain Reaction
law.invention
law
Intellectual Disability
Genetics
Humans
In patient
Multiplex
Multiplex ligation-dependent probe amplification
Child
Genetics (clinical)
Polymerase chain reaction
Sequence Deletion
Chromosome
Infant
Telomere
Subtelomere
Molecular biology
Child, Preschool
Female
DNA Probes
Subjects
Details
- Language :
- English
- ISSN :
- 10597794
- Database :
- OpenAIRE
- Journal :
- Human mutation
- Accession number :
- edsair.doi.dedup.....adacf655647725356d0890f2500a9877