| Fragile X Syndrome: Clinical, Cytogenetics and Molecular Screening among Autism Spectrum Disorder Children in Indonesia. | |
| | |
MedLine Citation:
|
PMID: 23320543 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
BACKGROUND: Fragile X testing is a priority in the evaluation of autism spectrum disorders (ASD) cases because identification of the FMR1 mutation leads to new treatment options. This study is focused on determining the prevalence of the FMR1 gene mutation among ASD cases in Indonesia. METHOD: DSM-IV-TR criteria were administered to diagnose ASD; symptom severity was classified using the Childhood Autism Rating Scale (CARS). Cytogenetic analysis, PCR, and Southern blot for FMR1 gene analysis were carried out to confirm the diagnosis of fragile X syndrome. RESULTS: The fragile X site and FMR1 full mutation allele were identified in 3 out of 65 (4.6%) and 4 out of 65 (6.15 %) children aged 3 to 17 years (57 boys, 8 girls) respectively. CONCLUSION: The Fragile X laboratory workup is essential in the evaluation of patients with ASD. Molecular analysis is most accurate, while cytogenetic documentation of the fragile X site can also be useful if molecular testing is not available. |
| | |
Authors:
|
Tri Indah Winarni; Agustini Utari; Farmaditya Ep Mundhofir; Randi J Hagerman; Sultana Mh Faradz |
Related Documents
:
|
9181353 - Transforming growth factor alpha locus and nonsyndromic cleft lip with or without cleft... 23118423 - Fine mapping of loci linked to autoimmune thyroid disease identifies novel susceptibili... 11973013 - Identification of quantitative trait loci for chemical/inflammatory nociception in mice. |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2013-1-16 |
Journal Detail:
|
Title: Clinical genetics Volume: - ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2013 Jan |
Date Detail:
|
Created Date: 2013-1-16 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
|
© 2013 John Wiley & Sons A/S. |
Affiliation:
|
Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine Diponegoro University, Semarang, Central Java, Indonesia. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Evidence for self-association of the alternative sigma factor ?(54).
Next Document: Decrease of postprandial endothelial dysfunction by spice mix added to high-fat hamburger meat in me...