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Archivos argentinos de pediatría

Print version ISSN 0325-0075On-line version ISSN 1668-3501


TARDIVO, Agostina et al. 16p11.2 Microdeletion: first report in Argentina. Arch. argent. pediatr. [online]. 2017, vol.115, n.6, pp.e449-e453. ISSN 0325-0075.

The 16p11.2 recurrent microdeletion phenotype is characterized by developmental delay, intellectual disability, and/or autism spectrum disorder. This microdeletion is associated with variable clinical outcome, the phenotypical spectrum ranges from intellectual disability and/or multiple congenital anomalies, autism, learning and speech problems, to a normal phenotype. Genomic testing that determines copy number of sequences, such as chromosomal microarray, is used to identify this microdeletion. However, the prediction of the individual phenotype of a patient based only on the location of such deletion remains a challenge, regarding the existence of many genomic variants that might hinder the interpretation of possible functional effects between most of the contributing genes to that region. We describe the clinical findings in two subjects with heterozygous microdeletions at 16p11.2, highlighting the phenotypic and behavioural findings that conditioned the diagnostic strategy. We also discuss the implications of diagnosis, in practical counselling situations.

Keywords : 16p11.2 microdeletion; Autistic spectrum disorder; Intellectual disability; ArrayCGH; Oligogenic inheritance.

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