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      Diagnosis of Fanconi Anaemia by Phenotype and Genetic study

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            Abstract

            Fanconi anaemia (FA) is an inherited bone marrow failure syndrome (IBMFS) that is common among children, in a ratio of one (1) person out of a population of 181 individuals. Early screening and/or detection of FA among intending couples or families with history of IBMFS is very important, to avoid bearing children with physical deformities and high risk of cancer development, as most sufferers have a very high possibility of the development of cancer. Therefore, this research was aimed at creating awareness on the dangers of late detection of IBMFS related diseases, basically Fanconi Anaemia.The most significant marker for Fanconi Anaemia (FA) diagnosis is the appearance of recurrent patterns of chromosome breakages. Fractures were noticeable when chromosome samples were treated with Diepoxybutane (DEB), Mitomicin C (MMC) or other similar chemical treatments. PCR and Bone Marrow Biopsy were deployed as confirmatory test.

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            ScienceOpen Posters
            ScienceOpen
            9 November 2022
            Affiliations
            [1 ] Department of Botany, Faculty of Science, University of Ibadan, Ibadan Oyo State, Nigeria
            Author notes
            Author information
            https://orcid.org/0000-0002-9370-8029
            Article
            10.14293/S2199-1006.1.SOR-.PPVLVGS.v1
            057ead3a-f62a-4e1d-961d-7944b8e90737

            This work has been published open access under Creative Commons Attribution License CC BY 4.0 , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Conditions, terms of use and publishing policy can be found at www.scienceopen.com .

            History
            : 9 November 2022

            The datasets generated during and/or analysed during the current study are available from the corresponding author on reasonable request.
            Medicine,Life sciences
            Bone marrow biopsy,Chromosome breakage test,Inherited bone marrow failure syndrome,Phenotypic assessment,Mitomycin C,Genetic testing,Fanconi Anaemia

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