Journal of Pediatric and Neonatal Individualized Medicine (Jan 2014)

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

  • Jean-Pierre Antunes Gonçalves,
  • Liliana Pinheiro,
  • Maria João Magalhães,
  • Arnaldo Cerqueira,
  • Eduarda Abreu,
  • Albina Silva,
  • Carla Sá,
  • Almerinda Pereira

DOI
https://doi.org/10.7363/030101
Journal volume & issue
Vol. 3, no. 1
pp. e030101 – e030101

Abstract

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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.

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