TY  - JOUR
TT  - Paternally inherited 17q12 microduplication: similar pattern of neurological signs and features in the father and his children
AU  - Pavone, Piero
AU  - Praticò, Andrea Domenico
AU  - Falsaperla, Raffaele
AU  - Beltrami, Nicola
AU  - Verrotti, Alberto
AU  - Ruggieri, Martino
PY  - 2016
DA  - February
JF  - Journal of Pediatric Sciences
PB  - Bilal YILDIZ
WT  - DergiPark
SN  - 1309-1247
VL  - 8
IS  - 0
KW  - 17q12 microduplication; absence seizures; movement disorders; ADHD; familial epilepsy
N2  - Clinically,17q12 chromosomal duplication has been associated with a wide variety ofphenotypes, ranging from normal individuals to patients with various, complexanomalies.The variablephenotypes of the 17q12 duplication have been suggested to be the result ofincomplete penetrance and variable expressivity of the duplication. Three geneshave been implicated as playing a role in the pathogenesis of this geneticanomaly: HFN1 (also known as TCF2), ACACA, and in particular LHX1,which has an important role in the early neuronal development. This molecularanomaly has been uncommonly reported. A genotype/phenotype correlation has not yetbeen well established.Here, wepresent a clinical report on a family, a father and his two children, harboringa 17q12 microduplication. Both children presented with a similar pattern ofclinical signs and features, including typical absence seizures, movement andbehavioral disorders, mild facial dysmorphisms, and mild intellectivedisability. Some of these anomalies were also present in the father, who hadsuffered from episodes of generalized tonic-clonic epilepsy in his childhood andshows clinical signs of movement and behavioral disorders that started at theage of 11 years.
CR  - Bertini V, Orsini A, Bonuccelli A, Cambi F, Del Pistoia M, Vannozzi I, et al. 17q12 microduplications: a challenge for clinicians. Am  J Med Genet A  2015; 167A(3):674-6.
UR  - https://dergipark.org.tr/tr/pub/jps/article/270666
ER  -