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Trisomy 6

MedGen UID:
96603
Concept ID:
C0432414
Cell or Molecular Dysfunction
Synonym: Mosaic trisomy 6
SNOMED CT: Trisomy 6 (205647005)
 
Monarch Initiative: MONDO:0043277

Definition

Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997). [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTrisomy 6

Professional guidelines

PubMed

Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J
Prenat Diagn 2020 Apr;40(5):612-617. Epub 2020 Feb 12 doi: 10.1002/pd.5654. PMID: 32003477

Recent clinical studies

Etiology

van Weelderen RE, Harrison CJ, Klein K, Jiang Y, Abrahamsson J, Alonzo T, Aplenc R, Arad-Cohen N, Bart-Delabesse E, Buldini B, De Moerloose B, Dworzak MN, Elitzur S, Fernández Navarro JM, Gamis A, Gerbing RB, Goemans BF, de Groot-Kruseman HA, Guest E, Ha SY, Hasle H, Kelaidi C, Lapillonne H, Leverger G, Locatelli F, Miyamura T, Norén-Nyström U, Polychronopoulou S, Rasche M, Rubnitz JE, Stary J, Tierens A, Tomizawa D, Zwaan CM, Kaspers GJL
Blood Adv 2024 Jun 25;8(12):3200-3213. doi: 10.1182/bloodadvances.2023011771. PMID: 38621200Free PMC Article
Chisholm KM, Smith J, Heerema-McKenney AE, Choi JK, Ries RE, Hirsch BA, Raimondi SC, Wang YC, Dang A, Alonzo TA, Sung L, Aplenc R, Gamis AS, Meshinchi S, Kahwash SB
Pediatr Blood Cancer 2023 May;70(5):e30251. Epub 2023 Feb 15 doi: 10.1002/pbc.30251. PMID: 36789545Free PMC Article
Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J
Prenat Diagn 2020 Apr;40(5):612-617. Epub 2020 Feb 12 doi: 10.1002/pd.5654. PMID: 32003477
Casalone R, Mazzola D, Righi R, Granata P, Minelli E, Salvadore M, Lombardo M, Bertani E
Cancer Genet Cytogenet 2000 Apr 15;118(2):136-43. doi: 10.1016/s0165-4608(99)00195-8. PMID: 10748294
Novak R, Agamanolis D, Dasu S, Igel H, Platt M, Robinson H, Shehata B
Pediatr Pathol 1988;8(5):477-82. doi: 10.3109/15513818809022303. PMID: 3226999

Diagnosis

Chen CP
Taiwan J Obstet Gynecol 2023 Nov;62(6):927-928. doi: 10.1016/j.tjog.2023.09.008. PMID: 38008519
Ishibashi M, Watanabe T, Kyozuka H, Yamaguchi A, Sato K, Sato M, Go H, Fujimori K
Fukushima J Med Sci 2021 Aug 27;67(2):83-88. Epub 2021 May 15 doi: 10.5387/fms.2020-28. PMID: 33994433Free PMC Article
Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J
Prenat Diagn 2020 Apr;40(5):612-617. Epub 2020 Feb 12 doi: 10.1002/pd.5654. PMID: 32003477
Carless MA, Griffiths LR
Adv Exp Med Biol 2014;810:160-81. doi: 10.1007/978-1-4939-0437-2_9. PMID: 25207365
Argiropoulos B, Clifford B, Crocker S, Sinclair-Bourque E, McCready E, McGowan-Jordan J, Johnston DL, Padmore R
J Pediatr Hematol Oncol 2011 Oct;33(7):e289-95. doi: 10.1097/MPH.0b013e31821503c8. PMID: 21768886

Therapy

Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, Surti U
Am J Med Genet A 2011 Aug;155A(8):1996-2002. Epub 2011 Jul 7 doi: 10.1002/ajmg.a.34106. PMID: 21739591
Zámecníkova A, Al Bahar S, Ramesh P
Leuk Res 2008 Sep;32(9):1454-7. Epub 2008 Feb 21 doi: 10.1016/j.leukres.2008.01.011. PMID: 18294688
Casalone R, Mazzola D, Righi R, Granata P, Minelli E, Salvadore M, Lombardo M, Bertani E
Cancer Genet Cytogenet 2000 Apr 15;118(2):136-43. doi: 10.1016/s0165-4608(99)00195-8. PMID: 10748294
Weh HJ, Kuse R, Hoffmann R, Seeger D, Suciu S, Kabisch H, Ritter J, Hossfeld DK
Blut 1988 Jan;56(1):19-26. doi: 10.1007/BF00321055. PMID: 3422167

Prognosis

Kitamura N, Ito Y, Kawai T, Kamura H, Yamamura M, Okubo H, Hasegawa A, Inoue M, Takahashi K, Miya M, Kawame H, Samura O, Okamoto A
Taiwan J Obstet Gynecol 2024 May;63(3):418-421. doi: 10.1016/j.tjog.2024.03.009. PMID: 38802211
van Weelderen RE, Harrison CJ, Klein K, Jiang Y, Abrahamsson J, Alonzo T, Aplenc R, Arad-Cohen N, Bart-Delabesse E, Buldini B, De Moerloose B, Dworzak MN, Elitzur S, Fernández Navarro JM, Gamis A, Gerbing RB, Goemans BF, de Groot-Kruseman HA, Guest E, Ha SY, Hasle H, Kelaidi C, Lapillonne H, Leverger G, Locatelli F, Miyamura T, Norén-Nyström U, Polychronopoulou S, Rasche M, Rubnitz JE, Stary J, Tierens A, Tomizawa D, Zwaan CM, Kaspers GJL
Blood Adv 2024 Jun 25;8(12):3200-3213. doi: 10.1182/bloodadvances.2023011771. PMID: 38621200Free PMC Article
Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J
Prenat Diagn 2020 Apr;40(5):612-617. Epub 2020 Feb 12 doi: 10.1002/pd.5654. PMID: 32003477
Heinonen K, Mahlamäki E
Cancer Genet Cytogenet 1996 Apr;87(2):123-6. doi: 10.1016/0165-4608(95)00284-7. PMID: 8625257
Novak R, Agamanolis D, Dasu S, Igel H, Platt M, Robinson H, Shehata B
Pediatr Pathol 1988;8(5):477-82. doi: 10.3109/15513818809022303. PMID: 3226999

Clinical prediction guides

Chisholm KM, Smith J, Heerema-McKenney AE, Choi JK, Ries RE, Hirsch BA, Raimondi SC, Wang YC, Dang A, Alonzo TA, Sung L, Aplenc R, Gamis AS, Meshinchi S, Kahwash SB
Pediatr Blood Cancer 2023 May;70(5):e30251. Epub 2023 Feb 15 doi: 10.1002/pbc.30251. PMID: 36789545Free PMC Article
Ishibashi M, Watanabe T, Kyozuka H, Yamaguchi A, Sato K, Sato M, Go H, Fujimori K
Fukushima J Med Sci 2021 Aug 27;67(2):83-88. Epub 2021 May 15 doi: 10.5387/fms.2020-28. PMID: 33994433Free PMC Article
Eggermann T, Oehl-Jaschkowitz B, Dicks S, Thomas W, Kanber D, Albrecht B, Begemann M, Kurth I, Beygo J, Buiting K
Mol Genet Genomic Med 2017 Nov;5(6):668-677. Epub 2017 Sep 22 doi: 10.1002/mgg3.324. PMID: 29178649Free PMC Article
Schouten HC, Sanger WG, Weisenburger DD, Armitage JO
Cancer Genet Cytogenet 1990 Jul 1;47(1):73-82. doi: 10.1016/0165-4608(90)90265-c. PMID: 2357689
Novak R, Agamanolis D, Dasu S, Igel H, Platt M, Robinson H, Shehata B
Pediatr Pathol 1988;8(5):477-82. doi: 10.3109/15513818809022303. PMID: 3226999

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