Severe vitamin B deficiency is well known to cause morphological alterations in bone marrow. In rare instances, these myelodysplastic and megaloblastic changes can coexist with cytogenetic abnormalities. Here, we report a case of a 38-year-old African-American woman with pernicious anaemia, who was found to have an isolated 20q deletion and which resolved after vitamin B replacement. We also discuss various mechanisms in which vitamin B deficiency can lead to chromosomal abnormalities. A literature review is also performed to evaluate various other chromosomal aberrations associated with B deficiency.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5353375PMC
http://dx.doi.org/10.1136/bcr-2016-218689DOI Listing

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