Please use this identifier to cite or link to this item:
10.2478/v10046-011-0020-6
Title: | Trauslas X hromosomas sindroms : 13 gadu pieredze |
Other Titles: | The fragile X syndrome13 years of experience |
Authors: | Daneberga, Zanda Krumiņa, Zita Lace, Baiba Bauze, Daiga Lugovska, Rita Rīga Stradiņš University |
Keywords: | FMR1;fragile X syndrome;FRAXA;mental retardation;prevalence;3.2 Clinical medicine;1.1. Scientific article indexed in Web of Science and/or Scopus database;General |
Issue Date: | 1-Jan-2011 |
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 |
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. |
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. |
DOI: | 10.2478/v10046-011-0020-6 |
ISSN: | 1407-009X |
Appears in Collections: | Research outputs from Pure / Zinātniskās darbības rezultāti no ZDIS Pure |
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The_fragile_X_syndrome_13_years_of_experience.pdf | 73.79 kB | Adobe PDF | View/Open |
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