TY - JOUR T1 - Nijmegen breakage syndrome. JF - Journal of Medical Genetics JO - J Med Genet SP - 153 LP - 156 DO - 10.1136/jmg.33.2.153 VL - 33 IS - 2 AU - I van der Burgt AU - K H Chrzanowska AU - D Smeets AU - C Weemaes Y1 - 1996/02/01 UR - http://jmg.bmj.com/content/33/2/153.abstract N2 - 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. ER -