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Chromosome 12 Abnormality

MedGen UID:
1772948
•Concept ID:
C5418980
•
Cell or Molecular Dysfunction
Synonym: Chromosome 12 Aberration

Definition

An irregularity in the structure of chromosome 12. [from NCI]

Professional guidelines

PubMed

Prenatal diagnosis of Pallister-Killian syndrome and literature review.
Wu X, Xie X, Su L, Lin N, Liang B, Guo N, Chen Q, Xu L, Huang H
J Cell Mol Med 2021 Sep;25(18):8929-8935. Epub 2021 Aug 18 doi: 10.1111/jcmm.16853. PMID: 34405543Free PMC Article
The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome.
Chau MHK, Lam DYM, Zhu X, Kwok YKY, Ting YH, Chan WP, Shi M, Cheung SWH, Lau TK, Ville Y, Leung TY, Choy KW
Prenat Diagn 2020 Jul;40(8):1005-1012. Epub 2020 May 17 doi: 10.1002/pd.5721. PMID: 32350887
Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.
Salzano E, Raible SE, Kaur M, Wilkens A, Sperti G, Tilton RK, Bettini LR, Rocca A, Cocchi G, Selicorni A, Conlin LK, McEldrew D, Gupta R, Thakur S, Izumi K, Krantz ID
Am J Med Genet A 2018 Dec;176(12):2575-2586. Epub 2018 Oct 5 doi: 10.1002/ajmg.a.40499. PMID: 30289601

Recent clinical studies

Etiology

Complex Chromosomal Rearrangements in B-Cell Lymphoma: Evidence of Chromoanagenesis? A Case Report.
Ortega V, Chaubey A, Mendiola C, Ehman W Jr, Vadlamudi K, Dupont B, Velagaleti G
Neoplasia 2016 Apr;18(4):223-8. doi: 10.1016/j.neo.2016.02.004. PMID: 27108385Free PMC Article
Analysis of ETV6/AML1 abnormalities in acute lymphoblastic leukaemia: incidence, alternative spliced forms and minimal residual disease value.
Codrington R, O'Connor HE, Jalali GR, Carrara P, Papaioannou M, Hart SM, Hoffbrand AV, Potter M, Prentice HG, Harrison CJ, Foroni L
Br J Haematol 2000 Dec;111(4):1071-9. doi: 10.1046/j.1365-2141.2000.02464.x. PMID: 11167742

Diagnosis

Complex Chromosomal Rearrangements in B-Cell Lymphoma: Evidence of Chromoanagenesis? A Case Report.
Ortega V, Chaubey A, Mendiola C, Ehman W Jr, Vadlamudi K, Dupont B, Velagaleti G
Neoplasia 2016 Apr;18(4):223-8. doi: 10.1016/j.neo.2016.02.004. PMID: 27108385Free PMC Article
Ring chromosome 12 and severe oligospermia: a case report.
Martin JR, Wold A, Taylor HS
Fertil Steril 2008 Aug;90(2):443.e13-5. Epub 2007 Sep 19 doi: 10.1016/j.fertnstert.2007.07.1347. PMID: 17880954Free PMC Article
Analysis of ETV6/AML1 abnormalities in acute lymphoblastic leukaemia: incidence, alternative spliced forms and minimal residual disease value.
Codrington R, O'Connor HE, Jalali GR, Carrara P, Papaioannou M, Hart SM, Hoffbrand AV, Potter M, Prentice HG, Harrison CJ, Foroni L
Br J Haematol 2000 Dec;111(4):1071-9. doi: 10.1046/j.1365-2141.2000.02464.x. PMID: 11167742

Therapy

Complex Chromosomal Rearrangements in B-Cell Lymphoma: Evidence of Chromoanagenesis? A Case Report.
Ortega V, Chaubey A, Mendiola C, Ehman W Jr, Vadlamudi K, Dupont B, Velagaleti G
Neoplasia 2016 Apr;18(4):223-8. doi: 10.1016/j.neo.2016.02.004. PMID: 27108385Free PMC Article

Prognosis

Analysis of ETV6/AML1 abnormalities in acute lymphoblastic leukaemia: incidence, alternative spliced forms and minimal residual disease value.
Codrington R, O'Connor HE, Jalali GR, Carrara P, Papaioannou M, Hart SM, Hoffbrand AV, Potter M, Prentice HG, Harrison CJ, Foroni L
Br J Haematol 2000 Dec;111(4):1071-9. doi: 10.1046/j.1365-2141.2000.02464.x. PMID: 11167742

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