THE OPTIMIZATION OF THE DIAGNOSIS AND MANAGEMENT OF THE PATIENTS AFFECTED BY MENTAL RETARDATION USING MLPA TEST IN THE EVALUATION PROTOCOL
2006
Mental retardation (MR) is a relatively frequent disorder, with heterogeneous etiology and major social implications. Out of the genetic causes, an important part is represented by subtelomeric rearrangements (unidentified by classical analyses). MLPA (multiplex ligation-dependent probe amplification) is a new diagnostic method, cheap and very useful in identifying subtelomeric rearrangements.
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