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

Nijmegen Breakage syndrome: a progress report

C M Weemaes1, D F Smeets, C J van der Burgt

  • 1Department of Pediatrics, University Hospital Nijmegen, The Netherlands.

International Journal of Radiation Biology
|December 1, 1994
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

Telangiectasias: Small lesions referring to serious disorders.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2017
Same author

SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control.

Cytogenetic and genome research·2011
Same author

Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

British journal of cancer·2011
Same author

A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.

Journal of medical genetics·2008
Same author

Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.

Neurology·2007
Same author

The absent and vanishing spleen: congenital asplenia and hyposplenism--two case reports.

Acta paediatrica (Oslo, Norway : 1992)·2005

Nijmegen Breakage Syndrome (NBS) patients exhibit microcephaly, short stature, and frequent infections. NBS patients show severe immunodeficiency and a higher rate of chromosome 7 and 14 rearrangements and malignancy compared to Ataxia-Telangiectasia (A-T).

Area of Science:

  • Genetics
  • Immunology
  • Pediatrics

Background:

  • Nijmegen Breakage Syndrome (NBS) is a rare genetic disorder.
  • Clinical and cytogenetic findings in NBS patients are not fully understood.
  • Comparison with Ataxia-Telangiectasia (A-T) can provide insights into NBS pathogenesis.

Purpose of the Study:

  • To describe the clinical and immunological features of the first 30 NBS patients.
  • To analyze chromosomal aberrations in NBS patients.
  • To compare the frequency of chromosomal abnormalities and malignancy in NBS versus A-T.

Main Methods:

  • Clinical examination of 30 NBS patients.
  • Immunoglobulin level assessment.
  • T cell function testing.

Related Experiment Videos

  • Cytogenetic analysis of T lymphocytes for chromosomal aberrations.

    • Main Results:

    • All patients had microcephaly, short stature, and a 'bird-like' face.
    • Recurrent respiratory infections were common.
    • Immunodeficiency (IgG, IgA, IgG2, IgG4 deficiencies) and T cell defects were prevalent.
    • Chromosomal aberrations, particularly involving chromosomes 7 and 14, were significantly higher in NBS than A-T patients (p < 0.0005).
    • Eight of 19 patients developed malignancies (7 lymphomas, 1 meningioma).

    Conclusions:

    • NBS patients present with distinct physical features, severe immunodeficiency, and chromosomal instability.
    • The increased frequency of chromosome 7 and 14 rearrangements and malignancy in NBS warrants further investigation.
    • NBS appears to have a more severe immunodeficiency and higher risk of malignancy than A-T.