Diagnosis of Fanconi Anemia : Chromosomal Breakage Analysis
Joint Authors
Oostra, Anneke B.
Nieuwint, Aggie W. M.
de Winter, Johan P.
Joenje, Hans
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-05-24
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Oostra, Anneke B.& Nieuwint, Aggie W. M.& Joenje, Hans& de Winter, Johan P.. 2012. Diagnosis of Fanconi Anemia : Chromosomal Breakage Analysis. Anemia،Vol. 2012, no. 2012, pp.1-9.
https://search.emarefa.net/detail/BIM-456384
Modern Language Association (MLA)
Oostra, Anneke B.…[et al.]. Diagnosis of Fanconi Anemia : Chromosomal Breakage Analysis. Anemia No. 2012 (2012), pp.1-9.
https://search.emarefa.net/detail/BIM-456384
American Medical Association (AMA)
Oostra, Anneke B.& Nieuwint, Aggie W. M.& Joenje, Hans& de Winter, Johan P.. Diagnosis of Fanconi Anemia : Chromosomal Breakage Analysis. Anemia. 2012. Vol. 2012, no. 2012, pp.1-9.
https://search.emarefa.net/detail/BIM-456384
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-456384