Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Telomeric translocations are uncommon

H Rivera1, F L Sitch, J A Crolla

  • 1Wessex Regional Genetics Laboratory, Salisbury District Hospital, England.

Genetic Counseling (Geneva, Switzerland)
|January 1, 1995
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Patricia A. Jacobs (1934-2026).

American journal of human genetics·2026
Same author

Development of a new peptide-bead coupling method for an all peptide-based Luminex multiplexing assay for detection of Plasmodium falciparum antibody responses.

Journal of immunological methods·2021
Same authorSame journal

DID A del(2)(p11.2p13),inv(2)(p11.2q31) REARRANGEMENT RESULT FROM A GERMLINE RECIPROCAL INTRACHROMOSOME INSERTION?

Genetic counseling (Geneva, Switzerland)·2018
Same author

[Wolf-Hirschhorn syndrome: just a citation omission?]

Revista de neurologia·2017
Same author

Y-CHROMOSOME DE NOVO RECOMBINANTS. IMPLICATIONS FOR NOMENCLATURE.

Genetic counseling (Geneva, Switzerland)·2016
Same author

Short communication: Field fertility in Holstein bulls: Can type of breeding strategy (artificial insemination following estrus versus timed artificial insemination) alter service sire fertility?

Journal of dairy science·2016
Same journal

PRENATAL DIAGNOSIS OF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA.

Genetic counseling (Geneva, Switzerland)·2018
Same journal

A NOVEL MUTATION K447M (P.LYS447MET, C.1340 A>T) IDENTIFIED IN EXON 4 OF THE MEFV GENE.

Genetic counseling (Geneva, Switzerland)·2018
Same journal

TWO DIFFERENT MUTATIONS OF GL13 GENE IN TWO DIFFERENT SYNDROMES.

Genetic counseling (Geneva, Switzerland)·2018
Same journal

A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD.

Genetic counseling (Geneva, Switzerland)·2018
Same journal

A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION.

Genetic counseling (Geneva, Switzerland)·2018
See all related articles

Telomeric translocations, involving chromosome ends, are rare events. This study found no instances in 16 analyzed cases, suggesting they differ significantly from other chromosomal rearrangements.

Area of Science:

  • Genetics
  • Cytogenetics
  • Molecular Biology

Background:

  • Telomeric translocations are chromosomal rearrangements involving the ends of chromosomes.
  • Their occurrence and characteristics are not fully understood, particularly in relation to other types of translocations.

Purpose of the Study:

  • To investigate the frequency and characteristics of telomeric translocations.
  • To compare telomeric translocations with other reciprocal exchanges.

Main Methods:

  • Fluorescence in situ hybridization (FISH) using TTAGGG repeat probes was employed.
  • Analysis focused on 16 translocations with at least one terminal breakpoint from aneuploid patients.
  • At least 20 metaphases per individual were analyzed for telomeric signals at breakpoint junctions.

Related Experiment Videos

Main Results:

  • None of the 16 analyzed translocations exhibited telomeric repeats at the breakpoint junction.
  • All translocations appeared to be reciprocal events without interstitial telomeric sequences.
  • The study group included 11 de novo/unknown origin cases and 5 control familial rearrangements.

Conclusions:

  • Telomeric translocations are uncommon and appear to be distinct from reciprocal exchanges.
  • They predominantly occur as unbalanced events with a de novo origin and low recurrence risk.
  • Their malsegregation patterns and tendency for "jumping" behavior differentiate them from other translocation types.