dc.creatorOrmazábal, Mariel
dc.creatorSolari, Andrea
dc.creatorEspeche, Lucía
dc.creatorCastro, Tania
dc.creatorBuzzalino, Noemí
dc.date2019-11-21T20:00:28Z
dc.date2019-11-21T20:00:28Z
dc.date2019-06-01
dc.date.accessioned2023-08-29T20:06:03Z
dc.date.available2023-08-29T20:06:03Z
dc.identifierhttp://sgc.anlis.gob.ar/handle/123456789/1326
dc.identifier10.5546/aap.2019.e257
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8518947
dc.descriptionThe fragile X syndrome occurs due to an expansion of CGG trinucleotides, called full mutation, which is found at the Xq27.3 locus of the FMR1 gene. It is the most common cause of inherited intellectual disability. Associated with autistic spectrum disorders in one third of the patients, it affects males with higher prevalence. It also leads to hypermethylation of the gene promoter, silencing it and reducing the expression levels of FMRP, a protein involved in synaptic maturation and plasticity. A lower expansion causes primary ovarian failure syndrome as well as tremor and ataxia syndrome characterized by progressive cerebellar ataxia of late onset and intention tremor. In the present case-control study we analyze the segregation of mutations of the FMR1 gene in different families and the variability of expression that led to the genetic consultation.
dc.languagees
dc.relationArchivos argentinos de pediatria
dc.rightsnone
dc.subjectFMR1
dc.subjectSíndrome del Cromosoma X Frágil
dc.subjectDiscapacidad intelectual
dc.subjectInsuficiencia Ovárica Primaria
dc.title[Fragile X syndrome and other entities associated with the FMR1 gene: Study of 28 affected families]
dc.typeArtículo


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