novel chromosomal translocation t 7 14 q36 3 q11 2 dn in a female child with dysmorphic features

• DOI: 10.7363/030101
• Publication Date: 2014-01-01
• Authors: Carla Sá; Almerinda Pereira; Eduarda Abreu; Albina Silva; Liliana Pinheiro; Jean-Pierre Antun...; Arnaldo Cerqueira; Maria Joao Magalhaes
• Keywords: karyotype; phenotype; R; translocation; Medicine; Pediatrics; RJ1-570

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.