diagnostic overlap between fanconi anemia and the cohesinopathies roberts syndrome and warsaw breakage syndrome诊断重叠fanconi贫血和罗伯茨cohesinopathies综合症和华沙破损综合症.pdfVIP

Hindawi Publishing Corporation Anemia Volume 2010, Article ID 565268, 7 pages doi:10.1155/2010/565268 Clinical Study Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome Petra van der Lelij, Anneke B. Oostra, Martin A. Rooimans, Hans Joenje, and Johan P. de Winter Department of Clinical Genetics, VU University Medical Center, Van der Boechorststraat 7, 1081 BT Amsterdam, The Netherlands Correspondence should be addressed to Johan P. de Winter, j.dewinter@vumc.nl Received 13 April 2010; Accepted 10 June 2010 Academic Editor: John S. Waye Copyright © 2010 Petra van der Lelij et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Fanconi anemia (FA) is a recessively inherited disease characterized by multiple symptoms including growth retardation, skeletal abnormalities, and bone marrow failure. The FA diagnosis is complicated due to the fact that the clinical manifestations are both diverse and variable. A chromosomal breakage test using a DNA cross-linking agent, in which cells from an FA patient typically exhibit an extraordinarily sensitive response, has been considered the gold standard for the ultimate diagnosis of FA. In the majority of FA patients the test results are unambiguous, although in some cases the presence of hematopoietic mosaicism may complicate interpretation of the data. However, some diagnostic overlap with other syndromes has previously been noted in cases with Nijmegen breakage syndrome. Here we present results showing that misdiagnosis may also occur with patients suffering from two of the three currently known co