Deviren A, Yalman N, Hacihanefioglu S
Istanbul University, Cerrahpasa Medical Faculty, Genetics Department, Baharlibahce Sokak Kibris Apt No:17 Daire:14, 34740 Bakirkoy-Istanbul, Turkey.
Ann Hematol. 2003 Apr;82(4):223-7. doi: 10.1007/s00277-003-0614-4. Epub 2003 Mar 1.
Fanconi anemia (FA) is an autosomal recessive inherited disorder which is associated with a variety of congenital anomalies. These include morphometric abnormalities involving mainly the head and face, skeletal malformations particularly of the radial ray, growth retardation, abnormal skin pigmentation, deafness, and renal, ocular, genital, and cardiac defects. The cardinal clinical feature is a severe progressive pancytopenia. The overall aim of our study was to compare two different alkylating agents that would permit rapid and unequivocal detection of FA. A total of 271 patients underwent nitrogen mustard (NTM) and diepoxybutane (DEB) tests in our laboratory; baseline chromosomal breakage was studied for all of them. After the results of the chromosomal breakage studies, 72 patients were diagnosed as affected and 136 patients as unaffected by FA. We also studied 63 family members of FA patients. According to our study, NTM seems more specific to identify chromosomal breakages in FA parents than DEB.
范可尼贫血（FA）是一种常染色体隐性遗传性疾病，与多种先天性异常有关。这些异常包括主要涉及头部和面部的形态测量异常、特别是桡骨射线的骨骼畸形、生长发育迟缓、皮肤色素沉着异常、耳聋以及肾脏、眼睛、生殖器和心脏缺陷。主要临床特征是严重的进行性全血细胞减少。我们研究的总体目标是比较两种不同的烷化剂，以便能够快速且明确地检测出FA。共有271名患者在我们实验室接受了氮芥（NTM）和二环氧丁烷（DEB）检测；对所有患者都研究了基线染色体断裂情况。根据染色体断裂研究结果，72名患者被诊断为患有FA，136名患者被诊断为未患FA。我们还研究了63名FA患者的家庭成员。根据我们的研究，NTM在识别FA患者父母的染色体断裂方面似乎比DEB更具特异性。
