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Paternally inherited 17q12 microduplication: similar pattern of neurological signs and features in the father and his children

Yıl 2016, Cilt 8, Sayı 0, 01.12.2016

Öz

Clinically, 17q12 chromosomal duplication has been associated with a wide variety of phenotypes, ranging from normal individuals to patients with various, complex anomalies. 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: HFN1 (also known as TCF2), ACACA, and in particular LHX1, 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. 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.

Kaynakça

  • 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.

Yıl 2016, Cilt 8, Sayı 0, 01.12.2016

Öz

Kaynakça

  • 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.

Ayrıntılar

Konular Tıp
Bölüm Case Reports
Yazarlar

Piero Pavone Bu kişi benim
University-Hospital “Policlinico-Vittorio Emanuele”, University of Catania, Italy
Italy


Andrea Domenico Praticò Bu kişi benim
Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Italy


Raffaele Falsaperla Bu kişi benim
University-Hospital “Policlinico-Vittorio Emanuele”, University of Catania, Italy


Nicola Beltrami Bu kişi benim
University-Hospital “Policlinico-Vittorio Emanuele”, University of Catania, Italy


Alberto Verrotti Bu kişi benim
Department of Pediatrics, University of Perugia, Italy


Martino Ruggieri Bu kişi benim
Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Italy

Yayımlanma Tarihi 1 Aralık 2016
Yayınlandığı Sayı Yıl 2016, Cilt 8, Sayı 0

Kaynak Göster

Bibtex @olgu sunumu { jps270666, journal = {Journal of Pediatric Sciences}, eissn = {1309-1247}, address = {}, publisher = {Bilal YILDIZ}, year = {2016}, volume = {8}, number = {0}, pages = { - }, title = {Paternally inherited 17q12 microduplication: similar pattern of neurological signs and features in the father and his children}, key = {cite}, author = {Pavone, Piero and Praticò, Andrea Domenico and Falsaperla, Raffaele and Beltrami, Nicola and Verrotti, Alberto and Ruggieri, Martino} }
APA Pavone, P. , Praticò, A. D. , Falsaperla, R. , Beltrami, N. , Verrotti, A. & Ruggieri, M. (2016). Paternally inherited 17q12 microduplication: similar pattern of neurological signs and features in the father and his children . Journal of Pediatric Sciences , 8 (0) , . Retrieved from https://dergipark.org.tr/tr/pub/jps/issue/19092/270666
MLA Pavone, P. , Praticò, A. D. , Falsaperla, R. , Beltrami, N. , Verrotti, A. , Ruggieri, M. "Paternally inherited 17q12 microduplication: similar pattern of neurological signs and features in the father and his children" . Journal of Pediatric Sciences 8 (2016 ): <https://dergipark.org.tr/tr/pub/jps/issue/19092/270666>
Chicago Pavone, P. , Praticò, A. D. , Falsaperla, R. , Beltrami, N. , Verrotti, A. , Ruggieri, M. "Paternally inherited 17q12 microduplication: similar pattern of neurological signs and features in the father and his children". Journal of Pediatric Sciences 8 (2016 ):
RIS TY - JOUR T1 - Paternally inherited 17q12 microduplication: similar pattern of neurological signs and features in the father and his children AU - Piero Pavone , Andrea Domenico Praticò , Raffaele Falsaperla , Nicola Beltrami , Alberto Verrotti , Martino Ruggieri Y1 - 2016 PY - 2016 N1 - DO - T2 - Journal of Pediatric Sciences JF - Journal JO - JOR SP - EP - VL - 8 IS - 0 SN - -1309-1247 M3 - UR - Y2 - 2016 ER -
EndNote %0 Journal of Pediatric Sciences Paternally inherited 17q12 microduplication: similar pattern of neurological signs and features in the father and his children %A Piero Pavone , Andrea Domenico Praticò , Raffaele Falsaperla , Nicola Beltrami , Alberto Verrotti , Martino Ruggieri %T Paternally inherited 17q12 microduplication: similar pattern of neurological signs and features in the father and his children %D 2016 %J Journal of Pediatric Sciences %P -1309-1247 %V 8 %N 0 %R %U
ISNAD Pavone, Piero , Praticò, Andrea Domenico , Falsaperla, Raffaele , Beltrami, Nicola , Verrotti, Alberto , Ruggieri, Martino . "Paternally inherited 17q12 microduplication: similar pattern of neurological signs and features in the father and his children". Journal of Pediatric Sciences 8 / 0 (Aralık 2016): - .
AMA Pavone P. , Praticò A. D. , Falsaperla R. , Beltrami N. , Verrotti A. , Ruggieri M. Paternally inherited 17q12 microduplication: similar pattern of neurological signs and features in the father and his children. Journal of Pediatric Sciences. 2016; 8(0): -.
Vancouver Pavone P. , Praticò A. D. , Falsaperla R. , Beltrami N. , Verrotti A. , Ruggieri M. Paternally inherited 17q12 microduplication: similar pattern of neurological signs and features in the father and his children. Journal of Pediatric Sciences. 2016; 8(0): -.
IEEE P. Pavone , A. D. Praticò , R. Falsaperla , N. Beltrami , A. Verrotti ve M. Ruggieri , "Paternally inherited 17q12 microduplication: similar pattern of neurological signs and features in the father and his children", Journal of Pediatric Sciences, c. 8, sayı. 0, Ara. 2016