Detection of the genetic abnormalities in patients with mental retardation using multiplex ligation-dependent probe amplification assay / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the relationship between subtelomeric rearrangements and idiopathic mental retardation (MR).</p><p><b>METHODS</b>Thirty unrelated patients were recruited using strict selection criteria. Patients were screened by multiplex ligation-dependent probe amplification (MLPA) for subtelomeric imbalance.</p><p><b>RESULTS</b>Five subtelomeric deletions/duplications were identified. They were 4p deletion, 21p duplication, 10p duplication combined with 4p deletion, 15p duplication, and 9p deletion combined with 3p duplication. These subtelomeric rearrangements were previously unidentified by conventional technique.</p><p><b>CONCLUSION</b>Children with unexplained mental retardation are related with subtelomeric rearrangements. MLPA is a rapid and an effective technique for detecting genetic abnormalities in patients with idiopathic MR.</p>