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Reversal of isolated 20q deletion with vitamin B12 replacement in a patient with pernicious anaemia.

Abstract Severe vitamin B12 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 B12 replacement. We also discuss various mechanisms in which vitamin B12 deficiency can lead to chromosomal abnormalities. A literature review is also performed to evaluate various other chromosomal aberrations associated with B12 deficiency.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title bmj case reports
Publication Year Start




PMID- 28275019
OWN - NLM
STAT- MEDLINE
DA  - 20170309
DCOM- 20170316
LR  - 20170316
IS  - 1757-790X (Electronic)
IS  - 1757-790X (Linking)
VI  - 2017
DP  - 2017 Mar 08
TI  - Reversal of isolated 20q deletion with vitamin B12 replacement in a patient with 
      pernicious anaemia.
LID - bcr2016218689 [pii]
LID - 10.1136/bcr-2016-218689 [doi]
AB  - Severe vitamin B12 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 B12 replacement. We
      also discuss various mechanisms in which vitamin B12 deficiency can lead to
      chromosomal abnormalities. A literature review is also performed to evaluate
      various other chromosomal aberrations associated with B12 deficiency.
CI  - 2017 BMJ Publishing Group Ltd.
FAU - Cingam, Shashank Reddy
AU  - Cingam SR
AD  - Department of Internal Medicine, Louisiana State University Health Sciences
      Center- Shreveport, LA, USA.
FAU - Koshy, Nebu
AU  - Koshy N
AD  - Department of Internal Medicine, Louisiana State University Health Sciences
      Center- Shreveport, LA, USA.
AD  - Division of Hematology and Oncology, Louisiana State University Health Sciences
      Center-Shreveport, LA, USA.
FAU - Veillon, Diana
AU  - Veillon D
AD  - Department of Pathology, Louisiana State University Health Sciences
      Center-Shreveport, LA, USA.
FAU - Peddi, Prakash
AU  - Peddi P
AD  - Department of Internal Medicine, Louisiana State University Health Sciences
      Center- Shreveport, LA, USA.
AD  - Division of Hematology and Oncology, Louisiana State University Health Sciences
      Center-Shreveport, LA, USA.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20170308
PL  - England
TA  - BMJ Case Rep
JT  - BMJ case reports
JID - 101526291
RN  - P6YC3EG204 (Vitamin B 12)
SB  - IM
MH  - Adult
MH  - African Americans/genetics
MH  - Anemia, Pernicious/*drug therapy/genetics
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 20/*genetics
MH  - Diagnosis, Differential
MH  - Female
MH  - Humans
MH  - Treatment Outcome
MH  - Vitamin B 12/*administration & dosage/therapeutic use
EDAT- 2017/03/10 06:00
MHDA- 2017/03/17 06:00
CRDT- 2017/03/10 06:00
AID - bcr-2016-218689 [pii]
AID - 10.1136/bcr-2016-218689 [doi]
PST - epublish
SO  - BMJ Case Rep. 2017 Mar 8;2017. pii: bcr2016218689. doi: 10.1136/bcr-2016-218689.

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