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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Hygeia Press di Corridori Marinella,
2014-01-01T00:00:00Z.
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MARC
| LEADER | 00000 am a22000003u 4500 | ||
|---|---|---|---|
| 001 | doaj_da7e03c816e64d8f9e2fc81b6762a8d2 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Jean-Pierre Antunes Gonçalves |e author |
| 700 | 1 | 0 | |a Liliana Pinheiro |e author |
| 700 | 1 | 0 | |a Maria João Magalhães |e author |
| 700 | 1 | 0 | |a Arnaldo Cerqueira |e author |
| 700 | 1 | 0 | |a Eduarda Abreu |e author |
| 700 | 1 | 0 | |a Albina Silva |e author |
| 700 | 1 | 0 | |a Carla Sá |e author |
| 700 | 1 | 0 | |a Almerinda Pereira |e author |
| 245 | 0 | 0 | |a Novel chromosomal translocation t(7;14)(q36.3;q11.2)dn in a female child with dysmorphic features |
| 260 | |b Hygeia Press di Corridori Marinella, |c 2014-01-01T00:00:00Z. | ||
| 500 | |a 2281-0692 | ||
| 500 | |a 10.7363/030101 | ||
| 520 | |a 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. | ||
| 546 | |a EN | ||
| 546 | |a IT | ||
| 690 | |a phenotype | ||
| 690 | |a translocation | ||
| 690 | |a karyotype | ||
| 690 | |a Medicine | ||
| 690 | |a R | ||
| 690 | |a Pediatrics | ||
| 690 | |a RJ1-570 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Journal of Pediatric and Neonatal Individualized Medicine, Vol 3, Iss 1, Pp e030101-e030101 (2014) | |
| 787 | 0 | |n https://www.jpnim.com/index.php/jpnim/article/view/92 | |
| 787 | 0 | |n https://doaj.org/toc/2281-0692 | |
| 856 | 4 | 1 | |u https://doaj.org/article/da7e03c816e64d8f9e2fc81b6762a8d2 |z Connect to this object online. |