ArticleBMC neurology2002
Chromosome 4q;10q translocations; comparison with different ethnic populations and FSHD patients.
Article in BMC neurology, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 26 citations in OpenAlex.
- Diversity challenges and reconciles genetics in facioscapulohumeral muscular dystrophy.Journal of human genetics · 2025Review
- Complex 4q35 and 10q26 Rearrangements: A Challenge for Molecular Diagnosis of Patients With Facioscapulohumeral Dystrophy.Neurology. Genetics · 2023Article
- Review
- Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update.Orphanet journal of rare diseases · 2021Review
- Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.Current molecular medicine · 2014Article
- Deciphering transcription dysregulation in FSH muscular dystrophy.Journal of human genetics · 2012Review
- Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.American journal of human genetics · 2012Article
- Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?Human genetics · 2012Review
- FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with disease.Journal of medical genetics · 2010Article
- Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution.American journal of human genetics · 2010Article
- Clinical and genetic analysis of Korean patients with facioscapulohumeral muscular dystrophy.Journal of Korean medical science · 2008Article
- Hybridization analysis of D4Z4 repeat arrays linked to FSHD.Chromosoma · 2007Article
- Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments.Human genetics · 2005Article
- The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy.American journal of human genetics · 2005Review
- Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy.American journal of human genetics · 2004Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFacioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder characterized by the weakness of facial, shoulder-girdle and upper arm muscles. Most patients with FSHD have fewer numbers of tandem repeated 3.3-kb KpnI units on chromosome 4q35. Chromosome 10q26 contains highly homologous KpnI repeats, and inter-chromosomal translocation has been reported.
methodsTo clarify the influence on the deletion of the repeats, we surveyed three different ethnic populations and FSHD patients using the BglII/BlnI dosage test.
resultsThe frequency of translocation in 153 Japanese, 124 Korean, 114 Chinese healthy individuals and 56 Japanese 4q35-FSHD patients were 27.5%, 29.8%, 19.3%, and 32.1%, respectively. The ratio of '4 on 10' (trisomy and quatrosomy of chromosome 4) was higher than that of '10 on 4' (nullsomy and monosomy of chromosome 4) in all populations.
conclusionsThe inter-chromosomal exchange was frequently observed in all four populations we examined, and no significant difference was observed between healthy and diseased groups.
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