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

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 7q3...

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Main Authors: Jean-Pierre Antunes Gonçalves (Author), Liliana Pinheiro (Author), Maria João Magalhães (Author), Arnaldo Cerqueira (Author), Eduarda Abreu (Author), Albina Silva (Author), Carla Sá (Author), Almerinda Pereira (Author)
Format: Book
Published: Hygeia Press di Corridori Marinella, 2014-01-01T00:00:00Z.
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Summary: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.
Item Description:2281-0692
10.7363/030101

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