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Tetrasomy 17

MedGen UID:
272854
•Concept ID:
C1515337
•
Cell or Molecular Dysfunction

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTetrasomy 17

Recent clinical studies

Etiology

Germline CHEK2 and ATM Variants in Myeloid and Other Hematopoietic Malignancies.
Stubbins RJ, Korotev S, Godley LA
Curr Hematol Malig Rep 2022 Aug;17(4):94-104. Epub 2022 Jun 8 doi: 10.1007/s11899-022-00663-7. PMID: 35674998
Typical, atypical and cryptic t(15;17)(q24;q21) (PML::RARA) observed in acute promyelocytic leukemia: A retrospective review of 831 patients with concurrent chromosome and PML::RARA dual-color dual-fusion FISH studies.
Gagnon MF, Berg HE, Meyer RG, Sukov WR, Van Dyke DL, Jenkins RB, Greipp PT, Thorland EC, Hoppman NL, Xu X, Baughn LB, Reichard KK, Ketterling RP, Peterson JF
Genes Chromosomes Cancer 2022 Oct;61(10):629-634. Epub 2022 Jun 10 doi: 10.1002/gcc.23070. PMID: 35639830
Tetraploidy and chromosomal instability are early events during cervical carcinogenesis.
Olaharski AJ, Sotelo R, Solorza-Luna G, Gonsebatt ME, Guzman P, Mohar A, Eastmond DA
Carcinogenesis 2006 Feb;27(2):337-43. Epub 2005 Aug 25 doi: 10.1093/carcin/bgi218. PMID: 16123119
Clinical, cytogenetic, and molecular analyses of prenatally diagnosed mosaic tetrasomy for distal chromosome 15q and review of the literature.
Chen CP, Lin CC, Li YC, Chern SR, Lee CC, Chen WL, Lee MS, Wang W, Tzen CY
Prenat Diagn 2004 Oct;24(10):767-73. doi: 10.1002/pd.977. PMID: 15503270
Basal keratinocyte tetrasomy in low-grade squamous intra-epithelial lesions of the cervix is restricted to high and intermediate risk HPV infection but is not type-specific.
Giannoudis A, Evans MF, Southern SA, Herrington CS
Br J Cancer 2000 Jan;82(2):424-8. doi: 10.1054/bjoc.1999.0937. PMID: 10646899Free PMC Article

Diagnosis

Germline CHEK2 and ATM Variants in Myeloid and Other Hematopoietic Malignancies.
Stubbins RJ, Korotev S, Godley LA
Curr Hematol Malig Rep 2022 Aug;17(4):94-104. Epub 2022 Jun 8 doi: 10.1007/s11899-022-00663-7. PMID: 35674998
Typical, atypical and cryptic t(15;17)(q24;q21) (PML::RARA) observed in acute promyelocytic leukemia: A retrospective review of 831 patients with concurrent chromosome and PML::RARA dual-color dual-fusion FISH studies.
Gagnon MF, Berg HE, Meyer RG, Sukov WR, Van Dyke DL, Jenkins RB, Greipp PT, Thorland EC, Hoppman NL, Xu X, Baughn LB, Reichard KK, Ketterling RP, Peterson JF
Genes Chromosomes Cancer 2022 Oct;61(10):629-634. Epub 2022 Jun 10 doi: 10.1002/gcc.23070. PMID: 35639830
A review of structural brain abnormalities in Pallister-Killian syndrome.
Poulton C, Baynam G, Yates C, Alinejad-Rokny H, Williams S, Wright H, Woodward KJ, Sivamoorthy S, Peverall J, Shipman P, Ravine D, Beilby J, Heng JI
Mol Genet Genomic Med 2018 Jan;6(1):92-98. Epub 2017 Dec 9 doi: 10.1002/mgg3.351. PMID: 29222831Free PMC Article
Seizure characteristics in Pallister-Killian syndrome.
Candee MS, Carey JC, Krantz ID, Filloux FM
Am J Med Genet A 2012 Dec;158A(12):3026-32. Epub 2012 Nov 20 doi: 10.1002/ajmg.a.35567. PMID: 23169688
Clinical, cytogenetic, and molecular analyses of prenatally diagnosed mosaic tetrasomy for distal chromosome 15q and review of the literature.
Chen CP, Lin CC, Li YC, Chern SR, Lee CC, Chen WL, Lee MS, Wang W, Tzen CY
Prenat Diagn 2004 Oct;24(10):767-73. doi: 10.1002/pd.977. PMID: 15503270

Therapy

Chromosome-wide aneuploidy study of cultured circulating myeloid progenitor cells from workers occupationally exposed to formaldehyde.
Lan Q, Smith MT, Tang X, Guo W, Vermeulen R, Ji Z, Hu W, Hubbard AE, Shen M, McHale CM, Qiu C, Liu S, Reiss B, Beane-Freeman L, Blair A, Ge Y, Xiong J, Li L, Rappaport SM, Huang H, Rothman N, Zhang L
Carcinogenesis 2015 Jan;36(1):160-7. Epub 2014 Nov 12 doi: 10.1093/carcin/bgu229. PMID: 25391402Free PMC Article
A case of Pallister-Killian syndrome associated with West syndrome.
Yamamoto H, Fukuda M, Murakami H, Kamiyama N, Miyamoto Y
Pediatr Neurol 2007 Sep;37(3):226-8. doi: 10.1016/j.pediatrneurol.2007.05.001. PMID: 17765815
Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia.
Heerema NA, Raimondi SC, Anderson JR, Biegel J, Camitta BM, Cooley LD, Gaynon PS, Hirsch B, Magenis RE, McGavran L, Patil S, Pettenati MJ, Pullen J, Rao K, Roulston D, Schneider NR, Shuster JJ, Sanger W, Sutcliffe MJ, van Tuinen P, Watson MS, Carroll AJ
Genes Chromosomes Cancer 2007 Jul;46(7):684-93. doi: 10.1002/gcc.20451. PMID: 17431878
Tetraploidy and chromosomal instability are early events during cervical carcinogenesis.
Olaharski AJ, Sotelo R, Solorza-Luna G, Gonsebatt ME, Guzman P, Mohar A, Eastmond DA
Carcinogenesis 2006 Feb;27(2):337-43. Epub 2005 Aug 25 doi: 10.1093/carcin/bgi218. PMID: 16123119
Cat eye syndrome with hypogonadotropic hypogonadism.
Masukawa H, Ozaki T, Nogimori T
Intern Med 1998 Oct;37(10):853-6. doi: 10.2169/internalmedicine.37.853. PMID: 9840707

Prognosis

A novel coexistence of tetrasomy 8 and FLT3-ITD along with variant 3 way translocation t(4;17;15) in acute promyelocytic leukemia: Case study and literature review.
Pais A, Fernandes C, Dalvi R, Bafna V, Pawar R, Chavan D, Ahmad F
Cancer Genet 2022 Apr;262-263:111-117. Epub 2022 Feb 16 doi: 10.1016/j.cancergen.2022.02.004. PMID: 35219054
Schmid-Fraccaro syndrome: severe neurologic features.
Romagna ES, Appel da Silva MC, Ballardin PA
Pediatr Neurol 2010 Feb;42(2):151-3. doi: 10.1016/j.pediatrneurol.2009.07.020. PMID: 20117756
FISH cytogenetics and prognosis in breast and non-small cell lung cancers.
Massoner A, Augustin F, Duba HC, Zojer N, Fiegl M
Cytometry B Clin Cytom 2004 Nov;62(1):52-6. doi: 10.1002/cyto.b.20023. PMID: 15468329
Coexistence of tetrasomy 8 and trisomy 8 in acute promyelocytic leukemia (AML-M3) with t(15;17)(q22;q12).
Wang HP, Li GX, Qiao ZH, Ren WY, Wang HW
Zhongguo Shi Yan Xue Ye Xue Za Zhi 2004 Aug;12(4):406-10. PMID: 15363120
Tetrasomy 6 and 6q14 deletion are associated with better survival in hepatocellular carcinomas. a fluorescence in situ hybridization study of 77 cases.
Huang SF, Hsu HC, Chen JC, Chie WC, Lai P
Cancer Genet Cytogenet 2003 Jul 1;144(1):23-30. doi: 10.1016/s0165-4608(02)00860-9. PMID: 12810252

Clinical prediction guides

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
Fetta A, Toni F, Pettenuzzo I, Ricci E, Rocca A, Gambi C, Soliani L, Di Pisa V, Martini S, Sperti G, Cagnazzo V, Accorsi P, Bartolini E, Battaglia D, Bernardo P, Canevini MP, Ferrari AR, Giordano L, Locatelli C, Mancardi M, Orsini A, Pippucci T, Pruna D, Rosati A, Suppiej A, Tagliani S, Vaisfeld A, Vignoli A, Izumi K, Krantz I, Cordelli DM
Orphanet J Rare Dis 2024 Mar 8;19(1):107. doi: 10.1186/s13023-024-03065-5. PMID: 38459574Free PMC Article
Typical, atypical and cryptic t(15;17)(q24;q21) (PML::RARA) observed in acute promyelocytic leukemia: A retrospective review of 831 patients with concurrent chromosome and PML::RARA dual-color dual-fusion FISH studies.
Gagnon MF, Berg HE, Meyer RG, Sukov WR, Van Dyke DL, Jenkins RB, Greipp PT, Thorland EC, Hoppman NL, Xu X, Baughn LB, Reichard KK, Ketterling RP, Peterson JF
Genes Chromosomes Cancer 2022 Oct;61(10):629-634. Epub 2022 Jun 10 doi: 10.1002/gcc.23070. PMID: 35639830
Tetraploidy and chromosomal instability are early events during cervical carcinogenesis.
Olaharski AJ, Sotelo R, Solorza-Luna G, Gonsebatt ME, Guzman P, Mohar A, Eastmond DA
Carcinogenesis 2006 Feb;27(2):337-43. Epub 2005 Aug 25 doi: 10.1093/carcin/bgi218. PMID: 16123119
Coexistence of tetrasomy 8 and trisomy 8 in acute promyelocytic leukemia (AML-M3) with t(15;17)(q22;q12).
Wang HP, Li GX, Qiao ZH, Ren WY, Wang HW
Zhongguo Shi Yan Xue Ye Xue Za Zhi 2004 Aug;12(4):406-10. PMID: 15363120
Tetrasomy 6 and 6q14 deletion are associated with better survival in hepatocellular carcinomas. a fluorescence in situ hybridization study of 77 cases.
Huang SF, Hsu HC, Chen JC, Chie WC, Lai P
Cancer Genet Cytogenet 2003 Jul 1;144(1):23-30. doi: 10.1016/s0165-4608(02)00860-9. PMID: 12810252

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