ArticleBMC medical genetics2004
A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation.
Article in BMC medical genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 48 citations in OpenAlex.
- A Rare Presentation of Hyperphagia and Parasomnias Associated With Chromosome 4q Deletion: A Case Report.Case reports in psychiatry · 2025Article
- Optical Genome Mapping Identifies a Novel Unbalanced Translocation Between Chromosomes 4q and 6q Leading to Feeding Difficulties and Hypotonia in a Neonate: A Case Report.The application of clinical genetics · 2024Article
- Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review.Molecular cytogenetics · 2023Article
- Cytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder.Molecular cytogenetics · 2021Article
- Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat.Molecular cytogenetics · 2020Article
- Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report.Journal of medical case reports · 2016Article
- Prenatal diagnosis of 4p and 4q subtelomeric microdeletion in de novo ring chromosome 4.Case reports in obstetrics and gynecology · 2013Article
- De novo and inherited CNVs in MZ twin pairs selected for discordance and concordance on Attention Problems.European journal of human genetics : EJHG · 2012Article
- Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).Thrombosis and haemostasis · 2012Article
- 4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome.European journal of pediatrics · 2011Article
- Chromosome abnormalities, mental retardation and the search for genes in bipolar disorder and schizophrenia.Neurotoxicity research · 2008Review
- Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.American journal of medical genetics. Part A · 2008Article
- Directional and balancing selection in human beta-defensins.BMC evolutionary biology · 2008Article
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundCryptic structural abnormalities within the subtelomeric regions of chromosomes have been the focus of much recent research because of their discovery in a percentage of people with mental retardation (UK terminology: learning disability). These studies focused on subjects (largely children) with various severities of intellectual impairment with or without additional physical clinical features such as dysmorphisms. However it is well established that prevalence of schizophrenia is around three times greater in those with mild mental retardation. The rates of bipolar disorder and major depressive disorder have also been reported as increased in people with mental retardation. We describe here a screen for telomeric abnormalities in a cohort of 69 patients in which mental retardation co-exists with severe psychiatric illness.
methodsWe have applied two techniques, subtelomeric fluorescence in situ hybridisation (FISH) and multiplex amplifiable probe hybridisation (MAPH) to detect abnormalities in the patient group.
resultsA subtelomeric deletion was discovered involving loss of 4q in a patient with co-morbid schizoaffective disorder and mental retardation.
conclusionThe precise region of loss has been defined allowing us to identify genes that may contribute to the clinical phenotype through hemizygosity. Interestingly, the region of 4q loss exactly matches that linked to bipolar affective disorder in a large multiply affected Australian kindred.
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