Autori: C. Rusu, M. Bembea, C. Skrypnyk, M. Volosciuc, A. Siretean, E. Tomescu, M. Puiu, L. Barbarii;

Editorial: nature publishing group, European journal of human genetics, Volume 15 Supplement 1, p.76, 2007.

Rezumat:

Genetic causes of mental retardation (MR) are very heterogeneous. Subtelomeric rearrangements play an important role in idiopatic MR determinism. Different methods have been used to identify subtelomeric rearrangements, but recently introduced MLPA (Multiplex Ligation Probe Amplification) technique seems to provide the best results. We have used MLPA to identify subtelomeric rearrangements in children with idiopatic MR. The protocol included the following sequence of steps: clinical selection based on de Vries score; karyotype; antiFMRP test for Fragile X syndrome screening; MLPA testing using 2 independent kits in order to separate polymorphisms. We have selected cases using de Vries diagnostic score, only those with a score of 3/ more being selected. All patient data were recorded in a database that will be presented. The initial group was formed of 142 children with idiopatic MR. In 24 of them (16.9%) the karyotype revealed different abnormalities. 16 cases (11.3%) presented speech delay/ autism, but antiFMRP test was normal. 60 MLPA tests were done: 46 cases (76.7% were normal, 6 (10%) abnormal, 4 (6.7%) had polymorphism and 4 (6.7%) could not be interpreted. Clinical features of the cases identified with different subtelomeric rearrangements and polymorphisms are illustrated with photos and discussed in detail. The results will be confirmed with FISH. In conclusion, the diagnostic score is useful in case selection for further testing and MLPA proves to be efficient in diagnosing subtelomeric rearrangements as a possible cause of idiopatic MR.

Cuvinte cheie: MLPA, rearanjamente subtelomerice, retard mental idiopatic // MLPA*subtelomeric rearrangements*idiopatic mental retardation

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