Document Detail

Fragile X Syndrome: Clinical, Cytogenetics and Molecular Screening among Autism Spectrum Disorder Children in Indonesia.
MedLine Citation:
PMID:  23320543     Owner:  NLM     Status:  Publisher    
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.
Tri Indah Winarni; Agustini Utari; Farmaditya Ep Mundhofir; Randi J Hagerman; Sultana Mh Faradz
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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.
Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine Diponegoro University, Semarang, Central Java, Indonesia.
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