[Detection of the genetic abnormalities in patients with mental retardation using multiplex ligation-dependent probe amplification assay].

OBJECTIVE: To investigate the relationship between subtelomeric rearrangements and idiopathic mental retardation (MR). METHODS: Thirty unrelated patients were recruited using strict selection criteria. Patients were screened by multiplex ligation-dependent probe amplification (MLPA) for subtelomeric imbalance. RESULTS: 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. CONCLUSION: 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.