ArticleIranian journal of public health2013
A Case of Autism with Ring Chromosome 14.
Article in Iranian journal of public health, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.Orphanet journal of rare diseases · 2017Guideline
- Development of a patient-centered conceptual disease model in Ring 14 syndrome: a patient-centered model of lived experience.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2026Article
- The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes.HGG advances · 2022Review
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAutism is a complex neuropsychiatric disorder that manifests in early childhood. Although the etiology is unknown yet but, new hypothesis focused on identifying the key genes related to autism may elucidate its etiology. The main objective of the present study was to verify the value of karyotyping in autistic children and identifying association between chromosome abnormalities and autism.
methodsWe examined the peripheral blood lymphocytes cell culture for cytogenetic alterations by GTG-banding technique. The investigation was carried out on 50 autistic patients referred by Pediatric neurologist to Cytogenetic Laboratory in Khorasan-e-razavi Province, Iran.
resultsUsing GTG-banding technique, the chromosome analysis of patients identified an unbalanced male karyotype with a r (14) in all 50 metaphaseswere examined.
conclusionSince structural abnormalities may have a critical role in the etiology of autism, according to the region where is affected and number of related genes, therefore an outcome with wide spectrum of clinical manifestations could be expected. Furthermore by considering of recent study, the results indicated that there is an association between chromosome 14 with brain development and neurological disorders, but, in conclusion, it could not be suggested that in order to postulate cytogenetic testing in idiopathic autism patients, specifically screening for chromosome 14 which might has diagnostic value.
Indexed as
Identifiers
26171345PMC4499074What OpenQuestion holds
Registered trials
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