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PMID: 8929954 Published · ppublish English Journal Article Review

Nijmegen breakage syndrome.

Journal of medical genetics ·Vol. 33 ·No. 2 ·1996-02-00 ·Pages 153-6

van der Burgt I, Chrzanowska KH, Smeets D, Weemaes C

Abstract

Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. We report the clinical, immunological, chromosomal, and cell biological findings in 42 patients who are included in the NBS Registry in Nijmegen. The immunological, chromosomal, and cell biological findings resemble those in AT, but the clinical findings are quite different. NBS appears to be a separate entity not allelic with AT.

MeSH Terms
Abnormalities, Multiple/genetics Ataxia Telangiectasia/genetics Diagnosis, Differential Dwarfism/genetics Female Genes, Recessive Genetic Predisposition to Disease Humans Immunologic Deficiency Syndromes/genetics Infant, Newborn Infections/etiology Intellectual Disability/genetics Male Microcephaly/genetics Neoplasms/etiology Netherlands/epidemiology Pigmentation Disorders/genetics Prenatal Diagnosis Syndrome alpha-Fetoproteins/analysis
Chemicals
alpha-Fetoproteins
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
van der Burgt I
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
Chrzanowska K H
Smeets D
Weemaes C
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.33.2.153
Published
1996-02-00
Pages
153-6
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1051843
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.33.2.153 PMC Full Text View journal details
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