Dessì, Veronica (2012) La Metodica Next Generation Sequencing nella diagnosi di ritardo mentale sindromico: presentazione di due famiglie. Doctoral Thesis.
Mental retardation is a clinical condition that occur in 1-3% of general population. It can appear like a unique symptom or related with other clinical features, configuring Syndromic Mental Retardation. Genetic Abnormalities are responsible of 50% of MR. The study has been restricted to cases of familiar MR: we selected 2 family composed by non-consanguineous healthy parents with more than one child affected. Inclusion criteria were multi-organ malformation, serious cognitive-behavior impairment, and especially negativity of other genetic investigations. Patients were subjected to blood sampling in order to extract DNA and apply genechip arrays 6.0 Affymetrix method. First one was composed by 2 brothers affected with serious multi-organ malformations and MR. The second one was composed by 2 brothers affected by serious MR, myoclonic epilepsy, autism disease. Both family were investigated with complete clinical examinations. Nowadays our study is still in progress. Positives etiopathogenetic out-comes could open future clinic-applications of this method in many cold-cases with difficult investigation.
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