AI Article Synopsis
- Subtelomeric rearrangements play a significant role in idiopathic mental retardation, often without unique physical traits.
- A study screened 30 patients with unexplained mental retardation using Multiplex ligation-dependent probe amplification (MLPA), leading to the discovery of four genetic anomalies that traditional methods missed.
- The prevalence of subtelomeric imbalances in this study was about 13%, aligning with existing research, and MLPA was found to be a quicker and more cost-effective option compared to the fluorescence in situ hybridization (FISH) technique.
Article Abstract
Subtelomeric rearrangements significantly contribute to idiopathic mental retardation and result in several mental retardation syndromes; however, most subtelomeric defects lack a characteristic phenotype. Thirty patients with unexplained mental retardation, a normal R banded karyotype at the 550 band, and no clinically recognizable syndrome were screened by Multiplex ligation-dependent probe amplification (MLPA). Four anomalies were identified: deletion 17q, duplications (4q), and associated duplications 15q and Xq. This duplication was found in two sisters of the proband. Anomalies were unidentified by the conventional technique. The prevalence of subtelomeric imbalances in our cohort of moderate to severe mental retardation is around 13% and is consistent with the literature. The sensitivity of the MLPA technique was characterized on cytogenetically verified positive and negative controls. MLPA is a fast, reliable, and relatively inexpensive technique to detect subtelomeric rearrangement in comparison with the fluorescence in situ hybridization (FISH) technique.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s10528-009-9271-1 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The chromatin remodeler ADNP regulates neurodevelopmental disorder risk genes and neocortical neurogenesis.
Proc Natl Acad Sci U S A
January 2025
Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON K1H 8L6.
Although chromatin remodelers are among the most important risk genes associated with neurodevelopmental disorders (NDDs), the roles of these complexes during brain development are in many cases unclear. Here, we focused on the recently discovered ChAHP chromatin remodeling complex. The zinc finger and homeodomain transcription factor ADNP is a core subunit of this complex, and de novo mutations lead to intellectual disability and autism spectrum disorder.
View Article and Find Full Text PDFMetoclopramide-induced rapid-onset psychosis in a child with methylphenidate use: a case report.
Turk J Pediatr
December 2024
Department of Pediatric Neurology, Ankara Bilkent City Hospital, Ankara Yildirim Beyazit University Faculty of Medicine, Ankara, Türkiye.
Background: Metoclopramide, a dopamine antagonist employed for its antiemetic effects, can precipitate neuropsychiatric adverse effects, including extrapyramidal symptoms and, in a few instances, acute psychosis. Although there have been reports of metoclopramide-induced psychosis in elderly individuals, there is no documentation of such incidents in children as far as we are aware.
Case Presentation: This case report describes an 11-year-old girl with a history of mild intellectual disability and attention deficit hyperactivity disorder, managed with 10 mg of methylphenidate daily.
Roadmap to advance therapeutics for -related disorder: a patient organization perspective from SynGAP Research Fund.
Ther Adv Rare Dis
January 2025
SynGAP Research Fund, 2856 Curie Pl., San Diego, CA 92122, USA.
-related disorder (SRD) is a developmental and epileptic encephalopathy caused by a disruption of the gene. At the beginning of 2024, it is one of many rare monogenic brain disorders without disease-modifying treatments, but that is changing. This article chronicles the last 5 years, beginning when treatments for SRD were not publicly in development, to the start of 2024 when many SRD-specific treatments are advancing.
View Article and Find Full Text PDFPAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism.
Epilepsia Open
January 2025
Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Protein-activated kinases mediate spine morphogenesis and synaptic plasticity. PAK3 is part of the p21-activated kinases (PAKs) family of Ras-signaling serine/threonine kinases. Pathogenic variants in the X-linked gene PAK3 have been described in patients with neurodevelopmental syndromes.
View Article and Find Full Text PDFThe Valemee Visual System Helps Reduce Risk for Chronic Illness by Promoting Physical Fitness, Self-Efficacy and Independence in Adults With Intellectual Disabilities.
J Appl Res Intellect Disabil
January 2025
The Ohio State University, Columbus, USA.
Introduction: Sedentary behaviour among individuals with intellectual disabilities, driven by barriers such as limited access to adapted programs and low self-efficacy, contributes to chronic health conditions. This study evaluates the effectiveness of the Valemee Visual System (VVS), a novel tool offering visual support and structured exercise programming, in improving physical fitness and promoting exercise independence in this population.
Methods: A repeated measures design was employed with an 8-week intervention involving 22 participants aged 22-44 with mild to moderate intellectual disabilities.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!