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

Genetically determined chromosome instability syndromes.

T M Schroeder

    Cytogenetics and Cell Genetics
    |January 1, 1982
    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

    Kinetics of aluminum-induced inhibition of delta-aminolevulinic acid dehydratase in vitro.

    Biochemical pharmacology·1996
    Same author

    Spontaneous 6-thioguanine-resistant lymphocytes in Fanconi anemia patients and their heterozygous parents.

    Human genetics·1985
    Same author

    First announcement of the Fanconi anemia International Registry.

    Blood·1982
    Same author

    Genetics, pathoanatomy and prenatal diagnosis of Potter I syndrome and other urogenital tract diseases.

    Clinical genetics·1982
    Same author

    [Ethical conflicts in genetic counselling during pregnancies (author's transl)].

    Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde·1982
    Same author

    Quantitative and qualitative assay of amniotic-fluid acetylcholinesterase in the prenatal diagnosis of neural tube defects.

    Human genetics·1981
    Same journal

    Gene mapping in marsupials and monotremes. II. Assignments to the X chromosome of dasyurid marsupials.

    Cytogenetics and cell genetics·2012
    Same journal

    Assignment of the mouse Pcolce2 gene, which encodes procollagen C-proteinase enhancer protein 2, to chromosome 9 and localization of PCOLCE2 to human chromosome 3q23.

    Cytogenetics and cell genetics·2002
    Same journal

    Assignment of the mouse Vegfb gene to mouse chromosome 19 B by in situ hybridization.

    Cytogenetics and cell genetics·2002
    Same journal

    The mouse orthologue of the human ionotropic glutamate receptor-like gene (GRINL1A) maps(1) to mouse chromosome 9.

    Cytogenetics and cell genetics·2002
    Same journal

    Assignment of GRINL1B, a glutamate receptor-like processed gene, to human chromosome 4q12 by in situ hybridization.

    Cytogenetics and cell genetics·2002
    Same journal

    Assignment of progesterone receptor (PGR) to canine chromosome band 21q1.2 by in situ hybridization.

    Cytogenetics and cell genetics·2002
    See all related articles

    Chromosomal instability characterizes Fanconi

    Area of Science:

    • Genetics
    • Cell Biology
    • Oncology

    Background:

    • Spontaneous chromosomal instability is a hallmark of Fanconi's anemia (FA), Bloom's syndrome (BS), and ataxia telangiectasia (AT).
    • Differential diagnosis and understanding FA heterogeneity are increasingly critical.
    • Cancer data in FA and AT require further investigation.

    Purpose of the Study:

    • To review recent advances in understanding chromosomal instability in FA, BS, and AT.
    • To highlight similarities and differences in cellular and cytogenetic findings.
    • To explore potential defects in DNA repair mechanisms.

    Main Methods:

    • Comparative analysis of cell and cytogenetic studies.
    • Review of biochemical studies at the DNA level.

    Related Experiment Videos

  • Investigation of DNA repair enzyme subcellular localization.

    • Main Results:

    • FA, BS, and AT share chromosomal instability but exhibit distinct underlying mechanisms.
    • Biochemical and cytogenetic data suggest varied failures in DNA metabolism or repair.
    • Unusual cytoplasmic distribution of topoisomerase activity was observed in FA placentas, indicating potential nuclear transport defects.

    Conclusions:

    • Genetic defects in FA, BS, and AT lead to distinct, yet not fully defined, DNA repair pathway impairments.
    • Further data sharing and registries are essential for advancing research.
    • Specific nuclear transport defects may contribute to FA pathogenesis.