ArticleAmerican journal of human genetics1995
Mechanisms of small ring formation suggested by the molecular characterization of two small accessory ring chromosomes derived from chromosome 4.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Prenatal diagnosis of de novo small supernumerary marker chromosome 4q (4q11-q12): A case report.International journal of reproductive biomedicine · 2021Article
- Mechanisms of ring chromosome formation, ring instability and clinical consequences.BMC medical genetics · 2011Article
- Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.Journal of applied genetics · 2007Article
- Ring chromosome 15: characterization by array CGH.Human genetics · 2006Article
- Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.Human genetics · 2003Article
- A supernumerary marker chromosome originating from two different regions of chromosome 18.Journal of medical genetics · 2000Article
- Origins of accessory small ring marker chromosomes derived from chromosome 1.Journal of medical genetics · 1999Article
- Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH.Journal of medical genetics · 1996Review
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Molecular cloning of a microdissected small accessary ring chromosome 4 from a moderately retarded and dysmorphic patient has been performed to identify the origin of the ring chromosome. FISH was performed with cosmids identified with the cloned, microdissected products and with other markers from chromosome 4. The present study clearly demonstrates that the small ring in this patient originates from three discontinuous regions of chromosome 4: 4p13 or 14, the centromere, and 4q31. It is suggested that the origin of the ring chromosome is a ring involving the entire chromosome 4, which has then been involved in breakage and fusion events, as a consequence of DNA replication generating interlocked rings. A second severely retarded and dysmorphic patient also had a small accessary ring derived from chromosome 4. FISH studies of this ring are consistent with an origin from a contiguous region including the centromere to band 4q12. It is apparent that there are at least two mechanisms for the formation of small ring chromosomes. This adds a further complication in any attempt to ascertain common phenotypes between patients known to have morphologically similar markers derived from the same chromosome.
Indexed as
Identifiers
7485165PMC1801376What OpenQuestion holds
Registered trials
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