P-13

15q13.3 deletion syndrome: a case report

Marta Souto¹, Márcia Martins², Pedro Botelho¹, Osvaldo Moutinho³, Rosário Pinto Leite¹

¹Laboratório de Genética, Centro Hospitalar Trás-os-Montes e Alto Douro, Vila Real
²Consulta de Genética, Centro Hospitalar de Trás-os-Montes e Alto Douro, Vila Real
³Serviço de Ginecologia/Obstetrícia, Centro Hospitalar Trás-os-Montes e Alto Douro, Vila Real

The 15q13.3 deletion syndrome was first described in 2008 and is characterized by intellectual disability, seizures, autism spectrum disorders and behavioural problems, among others. The microdeletions typically involve loss of 1.5 to 2 Mb in the region 15q13.2q13.3, which contain seven genes. Although recent studies indicate that the CHRNA7 gene is responsible for the neurodevelopmental phenotype, it is not yet entirely clear what or which genes are responsible for the characteristic features of the syndrome.

We report a case of a child with a microdeletion on 15q13.3 chromosome region detected by array Comparative Genomic Hybridization (aCGH). A deletion of 494Kbp segment was found, involving the CHRNA7 gene. The child has moderate cognitive impairment, hyperactivity, impulsive behaviour and minor dysmorphic features (down-slating palpebral fissures, prominent nasal tip, large ears, short neck and pigmented naevi in the nuchae).

In the present case, the features described are consistent with phenotypic 15q13.3 deletion syndrome, like moderate cognitive disability, hyperactivity and impulsive behaviour, corroborate the recently proposed for CHRNA7 gene.

Every new case of a rare chromosomal alteration should be reported in order to obtain a more precise genotype/ phenotype correlation, improving risk evaluation and genetic counselling.