ArticleAmerican journal of medical genetics. Part A2006
A 9-year-old male with a duplication of chromosome 3p25.3p26.2: clinical report and gene expression analysis.
Article in American journal of medical genetics. Part A, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 44 citations in OpenAlex.
- Whole genome microarray analysis of gene expression in subjects with fragile X syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2007Trial
- Late Diagnosis of a 3p26.3p25.2 Microduplication in a Young Adult with Mild Neurodevelopmental Features: A Case Report and Literature Review.Molecular syndromology · 2026Article
- Structure-function relationships of the disease-linked A218T oxytocin receptor variant.Molecular psychiatry · 2022Article
- Engineered microRNA-based regulatory element permits safe high-dose miniMECP2 gene therapy in Rett mice.Brain : a journal of neurology · 2021Article
- Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.Pharmacology & therapeutics · 2021Review
- A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal.Clinical case reports · 2021Article
- Identification and Prognostic Value Exploration of Radiotherapy Sensitivity-Associated Genes in Non-Small-Cell Lung Cancer.BioMed research international · 2021Article
- Cell Adhesion Molecules Involved in Neurodevelopmental Pathways Implicated in 3p-Deletion Syndrome and Autism Spectrum Disorder.Frontiers in cellular neuroscience · 2020Review
- The Role of Sequence Duplication in Transcriptional Regulation and Genome Evolution.Current genomics · 2019Review
- Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features.Case reports in genetics · 2019Article
- Mind the (sr)GAP - roles of Slit-Robo GAPs in neurons, brains and beyond.Journal of cell science · 2017Review
- How genetics works? An illustrative case report.Indian journal of ophthalmology · 2016Review
- Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations.Molecular cytogenetics · 2016Article
- Medication Trials for Hyperphagia and Food-Related Behaviors in Prader-Willi Syndrome.Diseases (Basel, Switzerland) · 2015Review
- Ontogenesis of oxytocin pathways in the mammalian brain: late maturation and psychosocial disorders.Frontiers in neuroanatomy · 2014Review
- Intranasal oxytocin versus placebo in the treatment of adults with autism spectrum disorders: a randomized controlled trial.Molecular autism · 2012Article
- A familial rearrangement(3;5;9) with paternal and maternal transmission leading to a duplication 3p/ deletion 5p infant.Clinics (Sao Paulo, Brazil) · 2012Article
- Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature.Current genomics · 2011Article
- Oxytocin as feeding inhibitor: maintaining homeostasis in consummatory behavior.Pharmacology, biochemistry, and behavior · 2010Review
- The challenge of translation in social neuroscience: a review of oxytocin, vasopressin, and affiliative behavior.Neuron · 2010Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
We describe a 9-year-old male referred for genetic evaluation for Prader-Willi syndrome (PWS). PWS is the most common genetically defined cause of life-threatening obesity and results from a functional loss of paternally expressed genes from the chromosome 15q11-q13 region. The patient presented with pervasive developmental disorder, delayed speech, and rapid onset of obesity at age 4 years, all features similar to PWS. However, chromosome 15q11-q13 methylation testing and fragile X studies were normal. GTG-banding and fluorescence in situ hybridization (FISH) with whole chromosome 3 paint probe (WCP3) and a chromosome 3p subtelomeric probe suggested a duplication of 3p25.3p26.2, a finding supported by comparative genomic hybridization (CGH). This region of chromosome 3p contains genes which contribute to obesity and behavioral problems, most notably, ghrelin (GHRL), an oxytocin receptor (OXTR), solute carrier family six members (gamma-aminobutyric acid (GABA) neurotransmitter transporters, SLC6A1 and SLC6A11), and peroxisome proliferator-activated receptor gamma (PPARG). To characterize these obesity and behavior related genes in our subject, we performed quantitative RT-PCR and compared expression levels with similarly aged male subjects (four non-obese males, four obese males, and four PWS males-two with 15q11-q13 deletions and two with maternal disomy 15). Our studies suggest increased expression of several genes in the 3p duplication region, including GHRL and PPARG, which may contribute to the phenotypic features in our 3p duplication subject.
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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.