奈梅亨断裂综合征

van der Burgt I, Chrzanowska K H, Smeets D, Weemaes C

Department of Human Genetics, University Hospital Nijmegen, The Netherlands.

J Med Genet. 1996 Feb;33(2):153-6. doi: 10.1136/jmg.33.2.153.

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.

奈梅亨断裂综合征（NBS）是一种罕见的常染色体隐性疾病，也被称为共济失调毛细血管扩张症（AT）变体V1和V2，其特征为小头畸形、典型面容、身材矮小、免疫缺陷和染色体不稳定。我们报告了奈梅亨NBS登记处42例患者的临床、免疫学、染色体和细胞生物学研究结果。免疫学、染色体和细胞生物学研究结果与AT相似，但临床结果却大不相同。NBS似乎是一个与AT非等位的独立疾病实体。