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Investigation of the 22q11 region in individuals with cleft palate or velopharingeal insufficiency


Aberrations of the 22q11 region are amongst the most common constitutional chromosomal abnormalities, with an incidence of around 1 per 4000. The resulting varied and complex phenotypes make these disorders a significant health problem. Congenital conotruncal cardiac defects, immune deficiency, palatal abnormalities, characteristic facial features, learning disabilities, and psychiatric symptoms present as the most common features. Although most individuals with 22q11 deletion syndrome (22q11DS) are considered to have a "common 3MB deletion" that contains more than 45 known genes, 8% show a 1.5Mb deletion, and a minority has smaller overlapping and non-overlapping 22q11.2 deletions. Thus, a molecular test that could identify deletion variants is relevant not only for increasing diagnostic rates, but also for identifying specific genes that could be involved in different 22q11DS phenotype. MLPA is a technology based on simultaneous hybridization of 40 DNA sequence-specific probes enabling the detection and delineation of deletions and duplications in the 22q11 region. MLPA kit is a cost-effective, rapid, and sensitive method effective for not only detecting, but also sizing the recurrent deletions and duplications in proximal 22q11. The goal of the present work is the evaluation of a sample of 80 individuals presenting 22q11DS features by the MLPA technology. We believe that a definitive diagnosis of 22q11DS helps the team predict the future needs of the patient and aids early intervention and allocation of the appropriate resources. (AU)

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