MLPA Subtelomere Analysis in Tunisian Mentally Retarded Patients

Subtelomeric rearrangements significantly contribute to idiopathic mental retardation and result in several mental retardation syndromes; however, most subtelomeric defects lack a characteristic phenotype. Thirty patients with unexplained mental retardation, a normal R banded karyotype at the 550 ba...

Full description

Saved in:
Bibliographic Details
Published in:Biochemical genetics 2009-10, Vol.47 (9-10), p.727-733
Main Authors: Hila, Lamia, Tébourbi, Hédia, Abaied, Leila, Rejeb, Imène, Ben Jemaa, Lamia, Chaabouni, Habiba
Format: Article
Language:English
Subjects:
African Continental Ancestry Group - genetics
Biochemistry
Biomedical and Life Sciences
Biomedicine
Gene Deletion
Gene Duplication
Human Genetics
Humans
Intellectual Disability - genetics
Karyotypes
Medical Microbiology
Nucleic Acid Amplification Techniques
Phenotype
Telomere
Tunisia
Zoology
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Subtelomeric rearrangements significantly contribute to idiopathic mental retardation and result in several mental retardation syndromes; however, most subtelomeric defects lack a characteristic phenotype. Thirty patients with unexplained mental retardation, a normal R banded karyotype at the 550 band, and no clinically recognizable syndrome were screened by Multiplex ligation-dependent probe amplification (MLPA). Four anomalies were identified: deletion 17q, duplications (4q), and associated duplications 15q and Xq. This duplication was found in two sisters of the proband. Anomalies were unidentified by the conventional technique. The prevalence of subtelomeric imbalances in our cohort of moderate to severe mental retardation is around 13% and is consistent with the literature. The sensitivity of the MLPA technique was characterized on cytogenetically verified positive and negative controls. MLPA is a fast, reliable, and relatively inexpensive technique to detect subtelomeric rearrangement in comparison with the fluorescence in situ hybridization (FISH) technique.
ISSN:0006-2928
1573-4927
DOI:10.1007/s10528-009-9271-1