ArticleJournal of medical genetics1999
Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes.
Article in Journal of medical genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 97 citations in OpenAlex.
- Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay.Molecular cytogenetics · 2014Article
- Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.Neurogenetics · 2010Article
- Paternally derived translocation t(8;18)(q22.1;q22)pat associated in a patient with developmental delay: Case report and review.Journal of pediatric neurosciences · 2010Article
- Balanced translocations in mental retardation.Human genetics · 2009Review
- A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.Human mutation · 2009Article
- Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation.Human genetics · 2009Article
- Mapping translocation breakpoints by next-generation sequencing.Genome research · 2008Article
- Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.American journal of human genetics · 2008Article
- New perspectives for the elucidation of genetic disorders.American journal of human genetics · 2007Review
- Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis.Genomic medicine · 2007Article
- Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region.Journal of medical genetics · 2006Article
- Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections.Journal of medical genetics · 2006Article
- Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy.Human genetics · 2006Article
- Article
- Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.Human genetics · 2005Article
- De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay.Human genetics · 2005Article
- The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.Journal of medical genetics · 2005Article
- Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.American journal of human genetics · 2003Article
- Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.American journal of human genetics · 2003Article
- Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation.Journal of medical genetics · 2003Article
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Disease associated balanced chromosome rearrangements (DBCRs) have been instrumental in the isolation of many disease genes. To facilitate the molecular cytogenetic characterisation of DBCRs, we have generated a set of >1200 non-chimeric, cytogenetically and genetically anchored CEPH YACs, on average one per 3 cM, spaced over the entire human genome. By fluorescence in situ hybridisation (FISH), we have performed a systematic search for YACs spanning translocation breakpoints. Patients with DBCRs and either syndromic or non-syndromic mental retardation (MR) were ascertained through the Mendelian Cytogenetics Network (MCN), a collaborative effort of, at present, 270 cytogenetic laboratories throughout the world. In this pilot study, we have characterised 10 different MR associated chromosome regions delineating candidate regions for MR. Five of these regions are narrowed to breakpoint spanning YACs, three of which are located on chromosomes 13q21, 13q22, and 13q32, respectively, one on chromosome 4p14, and one on 6q25. In two out of six DBCRs, we found cytogenetically cryptic deletions of 3-5 Mb on one or both translocation chromosomes. Thus, cryptic deletions may be an important cause of disease in seemingly balanced chromosome rearrangements that are associated with a disease phenotype. Our region specific FISH probes, which are available to MCN members, can be a powerful tool in clinical cytogenetics and positional cloning.
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10227392PMC1734345W2141668516What OpenQuestion holds
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