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Revista de la Universidad Industrial de Santander. Salud
Print version ISSN 0121-0807On-line version ISSN 2145-8464
Abstract
ACOSTA ARAGON, María Amparo; HAMDAN PEREZ, Julián Andrés; MORAN QUINONES, Luisa María and MORENO ORTEGA, Diana Catherine. Unbalanced chromosomal translocation t(5;7)(q22;p15) in a child with congenital anomalies: clinical case report. Rev. Univ. Ind. Santander. Salud [online]. 2020, vol.52, n.1, pp.51-59. Epub Jan 01, 2020. ISSN 0121-0807. https://doi.org/10.18273/revsal.v52n1-2020007.
Introduction:
The incidence of congenital anomalies is 0,5%, wich 0,1 to 0,3% belong to structural chromosomic anomalies, between these are unbalanced translocations in which there are loss or gain of genetic information that results in phenotypic manifestations with health compromise of whom suffer it.
Case report:
A scholar patient with an unbalanced translocation t(5;7) (q22;p15) of paternal origin and its repercussions is described.
Discussion:
When there are rearrangements in genetic material, the clinical manifestations are linked to breakpoints localizations and as consequence to the genes included in this segments, as presented in our index case.
Conclusions:
The study of these patients is important because they must remain under medical surveillance due the risk of developing pathologies related with gene alterations implicated in the genetic rearrangement.
Keywords : Translocation; congenital anomalies; congenital malformations; karyotype; chromosome 5; chromosome 7..
