RESEARCH Open Access Concomitant deletion of c o

on ay on Recurrent deletions and duplications are important intellectual disability and congenital abnormalities [8]. Tassano et al. Molecular Cytogenetics (2015) 8:9 DOI 10.1186/s13039-015-0115-xItaly Full list of author information is available at the end of the articlecontributors to neurodevelopmental disorders with complex inheritance, including epilepsy. Among them, 16p13.11 deletion was described in individuals with schizophrenia [1], autism [2], epilepsy [3-5], attention deficit hyperactivity disorders [6], intellectual disability, microcephaly, and/or multiple congenital anomalies [2,7]. The variety of phenotypes and the presence of the rearrangement in unaffected relatives may be due to sev-eral factors, such as incomplete penetrance, variable Furthermore, this study revealed that the secondary CNVs are preferentially transmitted from maternal carriers. Interstitial duplications, and even more triplications, of the short arm of chromosome 19 are very rare. To our knowledge, only four patients have been described with a pure interstitial duplication of 19p ranging from the locus 19p13.2 to 19p13.3 and presenting various phenotypic features [9-12]. We describe here, for the first time, clinical observa-tions and array-CGH analysis of a patient with concomi-tant occurrence of a deletion of chromosome 16p13.11 and a triplication of chromosome 19p13.3. * Correspondence