Novel chromosomal translocation t(7;14)(q36.3;q11.2)dn in a female child with dysmorphic features
Vol. 3 No. 1 (2014), Articles
Vol. 3 No. 1 (2014)

Novel chromosomal translocation t(7;14)(q36.3;q11.2)dn in a female child with dysmorphic features

Articles
https://doi.org/10.7363/030101
Published 2014-01-10
Jean-Pierre Antunes Gonçalves
Pediatric Department, Braga Hospital; Community Health, School of Health Sciences, University of Minho, Portugal
Liliana Pinheiro
Neonatology, Braga Hospital, Braga
Maria João Magalhães
Pediatric Department, Braga Hospital, Braga
Arnaldo Cerqueira
Pediatric Department, Braga Hospital, Braga
Eduarda Abreu
Neonatology, Braga Hospital, Braga
Albina Silva
Neonatology, Braga Hospital, Braga
Carla Sá
Neonatology, Braga Hospital, Braga
Almerinda Pereira
Neonatology, Braga Hospital, Braga
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Keywords

phenotype
translocation
karyotype

How to Cite

Gonçalves, J.-P. A., Pinheiro, L., Magalhães, M. J., Cerqueira, A., Abreu, E., Silva, A., Sá, C., & Pereira, A. (2014). Novel chromosomal translocation t(7;14)(q36.3;q11.2)dn in a female child with dysmorphic features. Journal of Pediatric and Neonatal Individualized Medicine (JPNIM), 3(1), e030101. https://doi.org/10.7363/030101
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Abstract

When evaluating a newborn with peculiar phenotype it is mandatory to perform chromosomal studies. In this case report, the genetic study revealed a novel de novo translocation involving chromosome 7 and 14, thus establishing the following karyotype: as 45,XX,der (7)t(7;14)(q36.3;q11.2),-14dn.ish 7q36.3(VIJyRM2185 enh).mpla 7qsubtel(P036-E1,P070-B2)x3,14q11.2(P036-E1,P070-B2)x1.
https://doi.org/10.7363/030101
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