ArticleJournal of medical genetics1993
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.
Article in Journal of medical genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 78 citations in OpenAlex.
- Chromosomal puzzle in snakes: adjacent interstitial telomeric sites on chromosome 5 in three species of genus Vipera.Protoplasma · 2026Article
- Article
- Partners in crime: Tbf1 and Vid22 promote expansions of long human telomeric repeats at an interstitial chromosome position in yeast.PNAS nexus · 2022Article
- Article
- Review
- Interstitial telomeric repeats-associated DNA breaks.Nucleus (Austin, Tex.) · 2017Article
- Isochromosome Yp and jumping translocation of Yq resulting in five cell lines in an infertile male: a case report and review of the literature.Molecular cytogenetics · 2013Article
- De novo 7p partial trisomy characterized by subtelomeric FISH and whole-genome array in a girl with mental retardation.Molecular cytogenetics · 2011Article
- A 9p13-->p24 duplication coupled with a whole 22q translocation onto 9p24.Journal of applied genetics · 2007Article
- Centric fission--simple and complex mechanisms.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2004Review
- Insertion of a telomere repeat sequence into a mammalian gene causes chromosome instability.Molecular and cellular biology · 2001Article
- Article
- Comparative FISH mapping of the ancestral fusion point of human chromosome 2.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2000Article
- The preference for GT-rich DNA by the yeast Rad51 protein defines a set of universal pairing sequences.Genes & development · 1997Article
- Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome.Journal of medical genetics · 1997Article
- Chromosome 3p23 break with ring formation and translocation of displaced 3p23-->pter segment to 6pter.Journal of medical genetics · 1996Article
- The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications.American journal of human genetics · 1996Article
- Loss of telomeric sites in the chromosomes of Mus musculus domesticus (Rodentia: Muridae) during Robertsonian rearrangements.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 1995Article
- Article
- Colocalization of (TTAGGG)n telomeric sequences and ribosomal genes in Atlantic eels.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 1995Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Using in situ hybridisation, we identified interstitial telomeric sequences in seven chromosomal translocations present in normal and in syndromic subjects. Telomeric sequences were also found at the centromeric ends of a 4p and a 4q caused by centric fission of one chromosome 4. We found that rearrangements leading to interstitial telomeric sequences were of three types: (1) termino-terminal rearrangements with fusion of the telomeres of two chromosomes, of which we report one case; (2) rearrangements in which an acentric fragment of one chromosome fuses to the telomere of another chromosome. We describe four cases of Prader-Willi syndrome with the 15q1-qter transposed to the telomeric repeats of different recipient chromosomes; (3) telomere-centromere rearrangements in which telomeric sequences of one chromosome fuse with the centromere of another chromosome. We describe two examples of these rearrangements in which not only telomeric sequences but also remnants of alphoid sequences were found at the fusion point. Instability at the fusion point of the derivative chromosome was found in the Prader-Willi translocations but we were unable to correlate this instability with culture conditions. The two subjects with the termino-terminal rearrangement and the centric fission respectively have normal phenotypes. The two patients with telomere-centromere fusions were unbalanced for the short arm of an acrocentric chromosome and had failure to thrive; one of them also had dysmorphic facies. We postulate that these phenotypes could be the result of uniparental disomy.
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