title: Nijmegen breakage syndrome.
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.
authors.affiliation: Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
authors.forename: I
authors.initials: I
authors.lastname: van der Burgt
authors.forename: K H
authors.initials: KH
authors.lastname: Chrzanowska
authors.forename: D
authors.initials: D
authors.lastname: Smeets
authors.forename: C
authors.initials: C
authors.lastname: Weemaes
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001260:Ataxia Telangiectasia / Q000235:genetics*; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D020022:Genetic Predisposition to Disease; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007231:Infant, Newborn; D007239:Infections / Q000209:etiology; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009369:Neoplasms / Q000209:etiology; D009426:Netherlands / Q000453:epidemiology; D010859:Pigmentation Disorders / Q000235:genetics; D011296:Prenatal Diagnosis; D013577:Syndrome; D000509:alpha-Fetoproteins / Q000032:analysis
chemical_list: D000509:alpha-Fetoproteins