ArticleGenetics research international2014
Clinical Presentation and Microarray Analysis of Peruvian Children with Atypical Development and/or Aberrant Behavior.
Article in Genetics research international, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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
5 citing papers in PubMed, 6 citations in OpenAlex.
- Prader-Willi syndrome genetic subtypes and clinical neuropsychiatric diagnoses in residential care adults.Clinical genetics · 2018Article
- Clinical and genetic aspects of the 15q11.2 BP1-BP2 microdeletion disorder.Journal of intellectual disability research : JIDR · 2017Review
- Benefits and limitations of prenatal screening for Prader-Willi syndrome.Prenatal diagnosis · 2017Review
- High-resolution chromosome ideogram representation of currently recognized genes for autism spectrum disorders.International journal of molecular sciences · 2015Article
- Risk factors for self-injury, aggression, and stereotyped behavior among young children at risk for intellectual and developmental disabilities.American journal on intellectual and developmental disabilities · 2014Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
We report our experience with high resolution microarray analysis in infants and young children with developmental disability and/or aberrant behavior enrolled at the Centro Ann Sullivan del Peru in Lima, Peru, a low income country. Buccal cells were collected with cotton swabs from 233 participants for later DNA isolation and identification of copy number variation (deletions/duplications) and regions of homozygosity (ROH) for estimating consanguinity status in 15 infants and young children (12 males, 3 females; mean age ± SD = 28.1 m ± 7.9 m; age range 14 m-41 m) randomly selected for microarray analysis. An adequate DNA yield was found in about one-half of the enrolled participants. Ten participants showed deletions or duplications containing candidate genes reported to impact behavior or cognitive development. Five children had ROHs which could have harbored recessive gene alleles contributing to their clinical presentation. The coefficient of inbreeding was calculated and three participants showed first-second cousin relationships, indicating consanguinity. Our preliminary study showed that DNA isolated from buccal cells using cotton swabs was suboptimal, but yet in a subset of participants the yield was adequate for high resolution microarray analysis and several genes were found that impact development and behavior and ROHs identified to determine consanguinity status.
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.