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Oostra AB, Nieuwint AW, Joenje H, et al. Diagnosis of fanconi anemia: chromosomal breakage analysis. Anemia. 2012;2012:238731doi: 10.1155/2012/238731.
Oostra, A. B., Nieuwint, A. W., Joenje, H., & de Winter, J. P. (2012). Diagnosis of fanconi anemia: chromosomal breakage analysis. Anemia, 2012238731. https://doi.org/10.1155/2012/238731
Oostra, Anneke B, et al. "Diagnosis of fanconi anemia: chromosomal breakage analysis." Anemia vol. 2012 (2012): 238731. doi: https://doi.org/10.1155/2012/238731
Oostra AB, Nieuwint AW, Joenje H, de Winter JP. Diagnosis of fanconi anemia: chromosomal breakage analysis. Anemia. 2012;2012:238731. doi: 10.1155/2012/238731. Epub 2012 May 24. PMID: 22693659; PMCID: PMC3368163.
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Anemia. 2012;2012:238731. doi: 10.1155/2012/238731. Epub 2012 May 24.

Diagnosis of fanconi anemia: chromosomal breakage analysis.

Anemia

Anneke B Oostra, Aggie W M Nieuwint, Hans Joenje, Johan P de Winter

Affiliations

  1. Department of Clinical Genetics, VU University Medical Center, Van der Boechorststraat 7, 1081 BT Amsterdam, The Netherlands.

PMID: 22693659 PMCID: PMC3368163 DOI: 10.1155/2012/238731

Abstract

Fanconi anemia (FA) is a rare inherited syndrome with diverse clinical symptoms including developmental defects, short stature, bone marrow failure, and a high risk of malignancies. Fifteen genetic subtypes have been distinguished so far. The mode of inheritance for all subtypes is autosomal recessive, except for FA-B, which is X-linked. Cells derived from FA patients are-by definition-hypersensitive to DNA cross-linking agents, such as mitomycin C, diepoxybutane, or cisplatinum, which becomes manifest as excessive growth inhibition, cell cycle arrest, and chromosomal breakage upon cellular exposure to these drugs. Here we provide a detailed laboratory protocol for the accurate assessment of the FA diagnosis as based on mitomycin C-induced chromosomal breakage analysis in whole-blood cultures. The method also enables a quantitative estimate of the degree of mosaicism in the lymphocyte compartment of the patient.

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