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dc.contributor.advisorMateus Arbelaez, Heidi Eliana 
dc.contributor.advisorLaissue, Paul 
dc.creatorNavarrete Vargas, Julie Viviana 
dc.descriptionLos síndromes de enanismo esencial microcefálico son un grupo de enfermedades monogénicas infrecuentes que se caracterizan principalmente por talla baja extrema proporcionada de inicio prenatal y microcefalia severa. En los pacientes que formaron parte del presente estudio se investigaron variantes en el gen PCNT debido a que presentaban hallazgos clínicos compatibles con el síndrome MOPD II (enanismo esencial osteodisplásico microcefálico tipo II). Posteriormente, se amplió el estudio con una secuenciación de exoma en una paciente con variantes heterocigotas en el gen PCNT que no explicaban el fenotipo, encontrando una variante nueva en el gen DDX11 y realizando el diagnóstico de Síndrome de Warsaw Breakage en esta paciente.
dc.description.abstractMicrocephalic primordial dwarfism syndromes are a group of rare monogenic diseases that are characterized primarily by extreme low stature of prenatal onset and severe microcephaly. In patients who participated in the study, variants in the gene PCNT was investigated because they had clinical findings consistent with the MOPD II (Microcephalic osteodisplastic primordial dwarfism type II) syndrome. The study was expanded with exome sequencing in a patient who presented heterozygous variants in the PCNT gene, which could not explain the phenotype. This find gave room for the discovery of a new variant in the DDX11 gene that allowed for the diagnosis of the Warsaw Breakage syndrome in the patient.
dc.sourcereponame:Repositorio Institucional EdocUR
dc.sourceinstname:Universidad del Rosario
dc.subjectEnanismo esencial
dc.subjectSíndrome MOPD II
dc.subjectSíndrome de Warsaw Breakage
dc.subjectEl Santuario
dc.subject.ddcAntropología física 
dc.titleEstudio molecular de pacientes colombianos afectados por enanismo esencial
dc.publisherUniversidad del Rosario
dc.creator.degreeMagíster en Ciencias con Énfasis en Genética Humana
dc.publisher.programMaestría en Ciencias con Énfasis en Genética Humana
dc.publisher.departmentFacultad de medicina
dc.subject.keywordPrimordial dwarfism
dc.subject.keywordMOPD II syndrome
dc.subject.keywordWarsaw Breakage syndrome
dc.subject.keywordEl Santuario
dc.subject.decsSíndrome de Lange
dc.subject.decsSíndrome de Silver-Russell
dc.type.spaTesis de maestría
dc.rights.accesoAbierto (Texto completo)
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