16p11.2 Microdeletion: first report in Argentina

• Published in: Archivos argentinos de pediatría Vol. 115; no. 6; pp. e449 - e453
• Main Authors: Tardivo, Agostina, Masotto, Bárbara, Espeche, Lucía, Solari, Andrea P, Nevado, Julián, Rozental, Sandra
• Format: Journal Article
• Language: Spanish
• Published: Argentina 01-12-2017
• Subjects: Adolescent; Autistic Disorder - genetics; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 16 - genetics; Humans; Intellectual Disability - genetics; Male; Phenotype; oligogenic inheritance; 16p11.2 microdeletion; arrayCGH; autistic spectrum disorder; intellectual disability
• ISSN: 1668-3501
• DOI: 10.5546/aap.2017.e449

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 Microdeleción 16p11.2: primeros casos reportados en Argentina 16p11.2 Microdeletion: first report in Argentina 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.