16p13.11 microduplication: a case report

Marques, Bárbara; Ferreira, Cristina; Ventura, Catarina; Pedro, Sonia; Antunes, Diana; Nunes, Luis; Correia, Hildeberto

http://hdl.handle.net/10400.18/2824

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Abstract(s)

The short arm of chromosome 16 is very rich in segmental duplications, predisposing this region of the genome to a number of recurrent rearrangements, namely deletions and duplications. Although it is already known that there is a strong association between 16p13.11 deletion and neuropsychiatric disorders, the clinical significance of its reciprocal duplication is not clearly defined yet. 16p13.11 microduplication that results of non-allelic homologous recombination is a very rare genetic alteration which can be associated with variable clinical features including behavioural abnormalities, developmental delay, congenital heart defects and skeletal anomalies. We report a 7-years-old boy with global developmental delay, speech absence, microcephaly, dysmorphic facial features and inexpressive facies. Microarray analysis revealed a 3.3Mb duplication comprising the 16p13.11- p12.3 region, which was confirmed by fluorescence in situ hybridization with a BAC clone for 16p13.11. Eight annotated genes are present in this region including NDE1, the candidate gene for neurological and behavioural phenotype. Although this microduplication has been found in the normal population, is significantly enriched in patients with autism, schizophrenia and cognitive impairment. Several case reports until now suggest that this genomic abnormality has incomplete penetrance and variable expressivity and can constitute a new syndrome. With this case we intend to contribute to expand the spectrum of clinical findings associated to this genomic abnormality and provide further knowledge of the pathogenic involvement of this duplication.