Journal Title
Title of Journal: Biochem Genet
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Abbravation: Biochemical Genetics
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Authors: Lamia Hila Hédia Tébourbi Leila Abaied Imène Rejeb Lamia Ben Jemaa Habiba Chaabouni
Publish Date: 2009/07/10
Volume: 47, Issue: 9-10, Pages: 727-733
Abstract
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 ligationdependent 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
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