Trauslas X hromosomas sindroms : 13 gadu pieredze

Simple item page
dc.contributor.authorDaneberga, Zanda
dc.contributor.authorKrumiņa, Zita
dc.contributor.authorLace, Baiba
dc.contributor.authorBauze, Daiga
dc.contributor.authorLugovska, Rita
dc.contributor.institutionRīga Stradiņš University
dc.date.accessioned2021-08-18T07:15:01Z
dc.date.available2021-08-18T07:15:01Z
dc.date.issued2011-01-01
dc.descriptionFunding Information: The study was approved by the Latvian Central Medical Ethics Committee and the Rîga Stradiòð University Medical Ethics Committee, and supported by ESF project No. 2009/ 0147/1DP/1.1.2.1.2/09/IPIA/VIAA/009.
dc.description.abstractFragile X syndrome (FXS; MIM #300624; FRAXA, Xq27.3) is well known and a common cause of X-linked mental retardation. The syndrome is caused by dynamic mutation of FMR1 gene CpG island CGG repeats. Clinically FXS patients demonstrate delayed developmental milestones, particularly speech, attention-deficit/hyperactivity disorder, autistic features, and psychomotor development delay. Dysmorphic face and macroorchidism are important features in the postpubertal age. We present our 13-year experience with FXS patients who were confirmed by molecular diagnostic. Phenotype-genotype evaluation was made for 12 male FXS patients. Genotype-phenotype analysis did not reveal significant correlation between clinical symptoms observed in FXS patients and genotypes obtained from leucocytes DNA analysis. The prevalence of the fragile X syndrome in the Latvian male population was estimated to be 1/6428 (95% CI 5538-7552) or 15.55/100 000 males (95% CI 13.24 - 18.05). The prevalence of the fragile X syndrome among mentally retarded male patients was estimated to be 2.67%. The low number of diagnosed patients with fragile X syndrome demonstrated in our study led to the conclusion that fragile X syndrome is generally clinically unrecognised.en
dc.description.statusPeer reviewed
dc.format.extent6
dc.format.extent75564
dc.identifier.citationDaneberga, Z, Krumiņa, Z, Lace, B, Bauze, D & Lugovska, R 2011, 'Trauslas X hromosomas sindroms : 13 gadu pieredze', Proceedings of the Latvian Academy of Sciences, Section B: Natural, Exact, and Applied Sciences, vol. 65, no. 3-4, pp. 67-72. https://doi.org/10.2478/v10046-011-0020-6
dc.identifier.doi10.2478/v10046-011-0020-6
dc.identifier.issn1407-009X
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/6028
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=84857569164&partnerID=8YFLogxK
dc.language.isolav
dc.relation.ispartofProceedings of the Latvian Academy of Sciences, Section B: Natural, Exact, and Applied Sciences
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectFMR1
dc.subjectfragile X syndrome
dc.subjectFRAXA
dc.subjectmental retardation
dc.subjectprevalence
dc.subject3.2 Clinical medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.subjectGeneral
dc.titleTrauslas X hromosomas sindroms : 13 gadu pieredzelv
dc.title.alternativeThe fragile X syndrome13 years of experienceen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

Files

Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
The_fragile_X_syndrome_13_years_of_experience.pdf
Size:
73.79 KB
Format:
Adobe Portable Document Format
Download

Collections

Research outputs from Pure / Zinātniskās darbības rezultāti no ZDIS Pure