Please use this identifier to cite or link to this item:
10.2478/v10046-011-0020-6
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DC Field | Value | Language |
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dc.contributor.author | Daneberga, Zanda | - |
dc.contributor.author | Krumiņa, Zita | - |
dc.contributor.author | Lace, Baiba | - |
dc.contributor.author | Bauze, Daiga | - |
dc.contributor.author | Lugovska, Rita | - |
dc.date.accessioned | 2021-08-18T07:15:01Z | - |
dc.date.available | 2021-08-18T07:15:01Z | - |
dc.date.issued | 2011-01-01 | - |
dc.identifier.citation | Daneberga , 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.issn | 1407-009X | - |
dc.identifier.uri | https://dspace.rsu.lv/jspui/handle/123456789/6028 | - |
dc.description | Funding 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.abstract | Fragile 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.format.extent | 6 | - |
dc.format.extent | 75564 | - |
dc.language.iso | lav | - |
dc.relation.ispartof | Proceedings of the Latvian Academy of Sciences, Section B: Natural, Exact, and Applied Sciences | - |
dc.rights | info:eu-repo/semantics/openAccess | - |
dc.subject | FMR1 | - |
dc.subject | fragile X syndrome | - |
dc.subject | FRAXA | - |
dc.subject | mental retardation | - |
dc.subject | prevalence | - |
dc.subject | 3.2 Clinical medicine | - |
dc.subject | 1.1. Scientific article indexed in Web of Science and/or Scopus database | - |
dc.subject | General | - |
dc.title | Trauslas X hromosomas sindroms : 13 gadu pieredze | lv |
dc.title.alternative | The fragile X syndrome13 years of experience | en |
dc.type | /dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article | - |
dc.identifier.doi | 10.2478/v10046-011-0020-6 | - |
dc.contributor.institution | Rīga Stradiņš University | - |
dc.identifier.url | http://www.scopus.com/inward/record.url?scp=84857569164&partnerID=8YFLogxK | - |
dc.description.status | Peer reviewed | - |
Appears in Collections: | Research outputs from Pure / Zinātniskās darbības rezultāti no ZDIS Pure |
Files in This Item:
File | Size | Format | |
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The_fragile_X_syndrome_13_years_of_experience.pdf | 73.79 kB | Adobe PDF | View/Open |
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