@article{article_270666, title={Paternally inherited 17q12 microduplication: similar pattern of neurological signs and features in the father and his children}, journal={Journal of Pediatric Sciences}, volume={8}, year={2016}, url={https://izlik.org/JA54HB22PT}, author={Pavone, Piero and Praticò, Andrea Domenico and Falsaperla, Raffaele and Beltrami, Nicola and Verrotti, Alberto and Ruggieri, Martino}, keywords={17q12 microduplication; absence seizures; movement disorders; ADHD; familial epilepsy}, abstract={<p class="MsoNormal" style="text-align:justify;line-height:150%;"> <span lang="en-us" xml:lang="en-us">Clinically,
17q12 chromosomal duplication has been associated with a wide variety of
phenotypes, ranging from normal individuals to patients with various, complex
anomalies.  </span> <span style="font-size:.9em;">The variable
phenotypes of the 17q12 duplication have been suggested to be the result of
incomplete penetrance and variable expressivity of the duplication. Three genes
have been implicated as playing a role in the pathogenesis of this genetic
anomaly: </span> <i style="font-size:.9em;">HFN1 </i> <span style="font-size:.9em;"> (also known as </span> <i style="font-size:.9em;">TCF2 </i> <span style="font-size:.9em;">), </span> <i style="font-size:.9em;">ACACA </i> <span style="font-size:.9em;">, and in particular </span> <i style="font-size:.9em;">LHX1 </i> <span style="font-size:.9em;">,
which has an important role in the early neuronal development. This molecular
anomaly has been uncommonly reported. A genotype/phenotype correlation has not yet
been well established.  </span> <span style="font-size:.9em;">Here, we
present a clinical report on a family, a father and his two children, harboring
a 17q12 microduplication. Both children presented with a similar pattern of
clinical signs and features, including typical absence seizures, movement and
behavioral disorders, mild facial dysmorphisms, and mild intellective
disability. Some of these anomalies were also present in the father, who had
suffered from episodes of generalized tonic-clonic epilepsy in his childhood and
shows clinical signs of movement and behavioral disorders that started at the
age of 11 years. </span> </p>}