{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T16:13:31Z","timestamp":1790871211537,"version":"4.1.0"},"reference-count":40,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2017,2,24]]},"abstract":"<jats:p>Severe vitamin B<jats:sub>12<\/jats:sub> 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<jats:sub>12<\/jats:sub> replacement. We also discuss various mechanisms in which vitamin B<jats:sub>12<\/jats:sub> deficiency can lead to chromosomal abnormalities. A literature review is also performed to evaluate various other chromosomal aberrations associated with B<jats:sub>12<\/jats:sub> deficiency.<\/jats:p>","DOI":"10.1136\/bcr-2016-218689","type":"journal-article","created":{"date-parts":[[2017,3,8]],"date-time":"2017-03-08T11:00:22Z","timestamp":1488970822000},"page":"bcr2016218689","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":8,"title":["Reversal of isolated 20q deletion with vitamin B<sub>12<\/sub> replacement in a patient with pernicious anaemia"],"prefix":"10.1136","volume":"2017","author":[{"given":"Shashank Reddy","family":"Cingam","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Louisiana State University Health Sciences Center- Shreveport, LA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nebu","family":"Koshy","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Louisiana State University Health Sciences Center- Shreveport, LA, USA"},{"name":"Division of Hematology and Oncology, Louisiana State University Health Sciences Center-Shreveport, LA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Veillon","sequence":"additional","affiliation":[{"name":"Department of Pathology, Louisiana State University Health Sciences Center-Shreveport, LA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prakash","family":"Peddi","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Louisiana State University Health Sciences Center- Shreveport, LA, USA"},{"name":"Division of Hematology and Oncology, Louisiana State University Health Sciences Center-Shreveport, LA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2017,3,8]]},"reference":[{"issue":"188","key":"2025082723182741000_2017.mar08_2.bcr2016218689.1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3109\/00365529109111222","article-title":"Intrinsic factor secretion and cobalamin absorption: physiology and pathophysiology in the gastrointestinal tract","volume":"26","author":"Festen","year":"1991","journal-title":"Scand J Gastroenterol"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2006.05.001"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.3","doi-asserted-by":"publisher","DOI":"10.1016\/S0950-3536(05)80216-1"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.4","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.7.3290"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.5","doi-asserted-by":"crossref","first-page":"1656","DOI":"10.1182\/blood.V83.6.1656.1656","article-title":"Bone marrow cells from vitamin B12-and folate-deficient patients misincorporate uracil into DNA","volume":"83","author":"Wickramasinghe","year":"1994","journal-title":"Blood"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.6","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1007\/BF00261686","article-title":"Repair of uracil residues closely spaced on the opposite strands of plasmid DNA results in double-strand break and deletion formation","volume":"225","author":"Dianov","year":"1991","journal-title":"Mol Gen Genet"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.7","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/0165-7992(83)90062-3","article-title":"Folic acid and chromosome breakage I. Implications for genotoxicity studies","volume":"122","author":"Reidy","year":"1983","journal-title":"Mutat Res Lett"},{"issue":"7","key":"2025082723182741000_2017.mar08_2.bcr2016218689.8","first-page":"2071s","article-title":"Methyl groups in carcinogenesis: effects on DNA methylation and gene expression","volume":"52","author":"Wainfan","year":"1992","journal-title":"Cancer Res"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.9","doi-asserted-by":"publisher","DOI":"10.1038\/25779"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.10","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1205651"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.11","doi-asserted-by":"publisher","DOI":"10.1016\/S0024-3205(01)01066-9"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.12","doi-asserted-by":"crossref","unstructured":"Pusceddu I , Herrmann M , Kirsch SH , et al . One-carbon metabolites and telomere length in a prospective and randomized study of B-and\/or D-vitamin supplementation. Eur J Nutr 2016:1\u20132. DOI: 10.1007\/s00394-016-1231-z","DOI":"10.1007\/s00394-016-1231-z"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.13","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/0027-5107(77)90024-0","article-title":"Cytogenetic findings in pernicious anaemia. Comparison between results obtained with chromosome studies and the micronucleus test","volume":"45","author":"Jensen","year":"1977","journal-title":"Mutat Res"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.14","doi-asserted-by":"publisher","DOI":"10.1016\/S1383-5742(99)00056-3"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.15","doi-asserted-by":"crossref","first-page":"3249","DOI":"10.1182\/blood.V96.9.3249","article-title":"Apoptosis in megaloblastic anemia occurs during DNA synthesis by a p53-independent, nucleoside-reversible mechanism","volume":"96","author":"Koury","year":"2000","journal-title":"Blood"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.16","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1016\/S0140-6736(59)91808-2","article-title":"The interpretation of chromosome counts","volume":"274","author":"Ford","year":"1959","journal-title":"Lancet"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.17","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1182\/blood.V26.6.784.784","article-title":"Human bone marrow chromosomes in megaloblastic anemia","volume":"26","author":"Powsner","year":"1965","journal-title":"Blood"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.18","first-page":"1332","article-title":"[Cytogenetic research in pernicious anemia after treatment.]","volume":"92","author":"Astaldi","year":"1962","journal-title":"Schweiz Med Wochenschr"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.19","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1182\/blood.V25.5.662.662","article-title":"Chromosomal aberrations in pernicious anemia. Study of three cases before and after therapy","volume":"25","author":"Kiossoglou","year":"1965","journal-title":"Blood"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.20","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1111\/j.1600-0609.1970.tb01935.x","article-title":"Disappearance of chromosomal abnormalities in megaloblastic anaemia after treatment","volume":"7","author":"Keller","year":"1970","journal-title":"Scand J Haematol"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.21","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1182\/blood.V27.6.800.800","article-title":"Cytogenetic observations in vitamin B12 and folate deficiency","volume":"27","author":"Heath","year":"1966","journal-title":"Blood"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.22","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1111\/j.0954-6820.1967.tb07277.x","article-title":"Chromosome studies in pernicious anaemia","volume":"181","author":"Jensen","year":"1967","journal-title":"Acta Med Scand"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.23","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1111\/j.1600-0609.1971.tb00880.x","article-title":"Chromosome studies in megaloblastic anaemia before and after treatment","volume":"8","author":"Lawler","year":"1971","journal-title":"Scand J Haematol"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.24","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1007\/BF01631668","article-title":"The chromosome anomalies of the megaloblastic anaemias","volume":"16","author":"Bottura","year":"1968","journal-title":"Blut"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.25","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1097\/00043426-199605000-00014","article-title":"Pancytopenia with chromosomal fragility: vitamin B12 deficiency","volume":"18","author":"Chintagumpala","year":"1996","journal-title":"J Pediatr Hematol Oncol"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.26","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1097\/00043426-199605000-00013","article-title":"Transient 7q-in association with megaloblastic anemia due to dietary folate and vitamin Bl2 deficiency","volume":"18","author":"Wollman","year":"1996","journal-title":"J Pediatr Hematol Oncol"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.27","doi-asserted-by":"crossref","first-page":"1979","DOI":"10.1007\/s00277-012-1488-0","article-title":"Severe pernicious anemia with distinct cytogenetic and flow cytometric aberrations mimicking myelodysplastic syndrome","volume":"91","author":"Parmentier","year":"2012","journal-title":"Ann Hematol"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.28","first-page":"251","article-title":"[Cytogenetic analysis of a case of pernicious anemia before and after treatment.]","volume":"88","author":"Forteza","year":"1963","journal-title":"Rev Clin Esp"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.29","first-page":"164","article-title":"Vitamin B12 deficiency in an 18p-patient","volume":"105","author":"Goh","year":"1981","journal-title":"Arch Pathol Lab Med"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.30","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-008-0483-y"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.31","doi-asserted-by":"publisher","DOI":"10.1016\/j.leukres.2011.02.008"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.32","doi-asserted-by":"publisher","DOI":"10.1016\/0145-2126(93)90038-M"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.33","first-page":"67","article-title":"The prognostic significance of deletion of the long arm of chromosome 20 in myeloid disorders","volume":"8","author":"Campbell","year":"1994","journal-title":"Leukemia"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.34","doi-asserted-by":"publisher","DOI":"10.1093\/ajcp\/106.5.680"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.35","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1159\/000322941","article-title":"Vitamin B(12)-responsive pancytopenia mimicking myelodysplastic syndrome","volume":"125","author":"Kim","year":"2011","journal-title":"Acta Haematol"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.36","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-08-664862"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.37","doi-asserted-by":"publisher","DOI":"10.1097\/01.SMJ.0000082003.98003.88"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.38","doi-asserted-by":"publisher","DOI":"10.1007\/s002770000272"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.39","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1111\/j.1365-2141.1986.tb07504.x","article-title":"Immunological abnormalities in myelodysplastic syndromes I. Serum immunoglobulins and autoantibodies","volume":"63","author":"Mufti","year":"1986","journal-title":"Br J Haematol"},{"key":"2025082723182741000_2017.mar08_2.bcr2016218689.40","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1111\/j.1365-2141.1978.tb01038.x","article-title":"The lymphocyte as a marker of past nutritional status: persistence of abnormal lymphocyte deoxyuridine (dU) suppression test and chromosomes in patients with past deficiency of folate and vitamin B12","volume":"38","author":"Das","year":"1978","journal-title":"Br J Haematol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2016-218689","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T06:18:37Z","timestamp":1756361917000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2016-218689"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,8]]},"references-count":40,"alternative-id":["10.1136\/bcr-2016-218689"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2016-218689","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,8]]}}}