Presence of 2p25.3 Duplication and 2q37.3 Microdeletion Syndrome in the Same Individual

Presencia de duplicación 2p25.3 y síndrome de microdeleción 2q37.3 en un mismo individuo;
Presença de duplicação 2p25.3 e síndrome da microdeleção 2p25.3 no mesmo indivíduo

dc.creatorMoreno Giraldo, Lina Johanna
dc.creatorSatizabal Soto, Jose Maria
dc.creatorArturo Terranova, Daniela
dc.date2020-07-01
dc.date2023-03-22T19:09:41Z
dc.date2023-03-22T19:09:41Z
dc.date.accessioned2023-09-06T17:57:47Z
dc.date.available2023-09-06T17:57:47Z
dc.identifierhttps://revistas.unimilitar.edu.co/index.php/rmed/article/view/3784
dc.identifier10.18359/rmed.3784
dc.identifierhttp://hdl.handle.net/10654/43493
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8693629
dc.descriptionThe study of chromosome 2 in humans has allowed recognizing that its alteration, based on a specific location, can lead to various associated diseases. Through the phenotypic identification, supported by comparative genomic hybridization and subsequent bioinformatic analysis, the presence of a pathogenic duplication was detected in the chromosomal region 2p25.3p24.3 affecting 36 genes. Additionally, a pathogenic deletion was identified in cytoband 2q37.3 affecting 36 genes. The bioinformatic analysis showed interactions among genes that explain symptomatic characteristics. This is the first time that these two variants are present in the same individual. Both disorders have been associated with moderate psychomotor retardation, autism, ectopic neurohypophysis, arachnodactyly, congenital heart disease, and cardiovascular disorders. The hdac4 mutation has been suggested to cause most of the features of 2q37 microdeletion syndrome. The heterogeneous clinical phenotype derives from the chromosomal rearrangement found, which allows describing, interpreting, and providing the patient with timely targeted treatment and the respective family genetic counseling. Finally, this specific type of chromosomal rearrangement has been reported for the first time.
dc.descriptionEl estudio del cromosoma 2 en los seres humanos ha permitido reconocer que su alteración, basada en una localización específica, puede conducir a diversas enfermedades asociadas. Mediante la identificación fenotípica, sustentada en el estudio molecular de hibridación genómica comparativa y un estudio bioinformático posterior, se detectó la presencia de una duplicación patogénica en la región cromosómica 2p25.3p24.3, relacionada con la afección de 36 genes. Adicionalmente, se identificó una deleción patogénica en la citobanda 2q37.3, relacionada con la afección de 36 genes. El análisis bioinformático demostró interacciones entre genes que explican características sintomatológicas. Esta es la primera vez que se presentan estas dos variantes en un mismo individuo. Ambas alteraciones se han asociado con retraso psicomotor moderado, autismo, neurohipófisis ectópica, aracnodactilia, cardiopatía congénita y alteraciones cardiovasculares. Se ha propuesto que la mutación hdac4 es la causante de la mayoría de las características del síndrome de microdeleción 2q37. El fenotipo clínico heterogéneo es el resultado del reordenamiento cromosómico encontrado, lo cual permite describir, interpretar y dar un tratamiento oportuno y dirigido a la paciente y la respectiva conserjería genética familiar. Finalmente, esta es la primera vez que se reporta este tipo específico de reordenamiento cromosómico.
dc.descriptionO estudo do cromossomo 2 em seres humanos nos permitiu reconhecer que sua alteração, com base em uma localização específica, pode levar a diversas doenças associadas. Por meio da identificação fenotípica, apoiada no estudo molecular da hibridação genômica comparativa e em um estudo bioinformático posterior, foi detectada a presença de uma duplicação patogênica na região cromossômica 2p25.3p24.3, relacionada a 36 genes afetados. Além disso, uma deleção patogênica foi identificada na citobanda 2q37.3, relacionada a 36 genes afetados. A análise bioinformática mostrou interações entre genes que explicam características sintomáticas. É a primeira vez que essas duas variantes são apresentadas no mesmo indivíduo. Ambos os distúrbios têm sido associados a retardo psicomotor moderado, autismo, neuro-hipófise ectópica, aracnodactilia, doenças cardíacas congênitas e distúrbios cardiovasculares. Propõe-se que a mutação hdac4 é a causa da maioria das características da síndrome de microdeleção 2q37. O fenótipo clínico heterogêneo é o resultado do rearranjo cromossômico encontrado, que permite descrever, interpretar e oferecer um tratamento oportuno direcionado ao paciente e ao respectivo aconselhamento genético familiar. Finalmente,também é a primeira vez que esse tipo específico de rearranjo cromossômico é relatado.
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dc.formatapplication/pdf
dc.languagespa
dc.publisherUniversidad Militar Nueva Granada
dc.relationhttps://revistas.unimilitar.edu.co/index.php/rmed/article/view/3784/3946
dc.relationhttps://revistas.unimilitar.edu.co/index.php/rmed/article/view/3784/4114
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dc.rightsDerechos de autor 2019 Revista Med
dc.sourceRevista Med; Vol. 27 No. 2 (2019): july - december; 73-84
dc.sourceRevista Med; Vol. 27 Núm. 2 (2019): julio - diciembre; 73-84
dc.source1909-7700
dc.source0121-5256
dc.titlePresence of 2p25.3 Duplication and 2q37.3 Microdeletion Syndrome in the Same Individual
dc.titlePresencia de duplicación 2p25.3 y síndrome de microdeleción 2q37.3 en un mismo individuo
dc.titlePresença de duplicação 2p25.3 e síndrome da microdeleção 2p25.3 no mesmo indivíduo
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion


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