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Partial duplication of chromosome 17

MedGen UID:
1387434
Concept ID:
C4518505
Disease or Syndrome
Synonyms: Duplication of chromosome 17; partial duplication of chromosome 17; partial duplication of chromosome type 17; Partial trisomy of chromosome 17; partial trisomy of chromosome 17
SNOMED CT: Duplication of chromosome 17 (726356000); Partial trisomy of chromosome 17 (726356000)
 
Monarch Initiative: MONDO:0016935
Orphanet: ORPHA262677

Professional guidelines

PubMed

Lee MJ, Park SH, Shim SH, Moon MJ, Cha DH
Taiwan J Obstet Gynecol 2019 May;58(3):318-323. doi: 10.1016/j.tjog.2019.03.005. PMID: 31122516
Panani AD, Pappa V
In Vivo 2005 Nov-Dec;19(6):979-81. PMID: 16277010
Tolkendorf E, Mehner G, Prager B
Prenat Diagn 1991 May;11(5):339-42. doi: 10.1002/pd.1970110511. PMID: 1896421

Recent clinical studies

Etiology

Dirvanskyte P, Gurram B, Bolton C, Warner N, Jones KDJ, Griffin HR; Genomics England Research Consortium, Park JY, Keller KM, Gilmour KC, Hambleton S, Muise AM, Wysocki C, Uhlig HH
J Crohns Colitis 2023 Jan 27;17(1):49-60. doi: 10.1093/ecco-jcc/jjac103. PMID: 35907265Free PMC Article
de Wergifosse S, Bevilacqua E, Mezela I, El Haddad S, Gounongbe C, de Marchin J, Maggi V, Conotte S, Badr DA, Fils JF, Guizani M, Jani JC
J Matern Fetal Neonatal Med 2021 Nov;34(21):3552-3561. Epub 2019 Nov 13 doi: 10.1080/14767058.2019.1686478. PMID: 31722585
Wesner N, Drevon L, Guedon A, Fraison JB, Trad S, Kahn JE, Aouba A, Gillard J, Ponsoye M, Hanslik T, Gourguechon C, Liozon E, Laribi K, Rossignol J, Hermine O, Adès L, Carrat F, Fenaux P, Mekinian A, Fain O; GFM, MINHEMON (French Network of Dysimmune Disorders Associated to Hemopathies)
Eur J Haematol 2019 Jan;102(1):63-69. Epub 2018 Nov 14 doi: 10.1111/ejh.13174. PMID: 30218579
Oliveira R, Dória S, Madureira C, Lima V, Almeida C, Pinho MJ, Ramalho C, Matoso E, Barros A, Carreira IM, Moura CP
Gene 2013 Mar 15;517(1):120-4. Epub 2012 Dec 20 doi: 10.1016/j.gene.2012.12.045. PMID: 23266646
Blanchong CA, Chung EK, Rupert KL, Yang Y, Yang Z, Zhou B, Moulds JM, Yu CY
Int Immunopharmacol 2001 Mar;1(3):365-92. doi: 10.1016/s1567-5769(01)00019-4. PMID: 11367523

Diagnosis

Dai X, Shi F, Cheung CKY, Li J, Lin S
Andrologia 2022 Mar;54(2):e14316. Epub 2021 Nov 18 doi: 10.1111/and.14316. PMID: 34791684
Lee MJ, Park SH, Shim SH, Moon MJ, Cha DH
Taiwan J Obstet Gynecol 2019 May;58(3):318-323. doi: 10.1016/j.tjog.2019.03.005. PMID: 31122516
Fukushi D, Kurosawa K, Suzuki Y, Suzuki K, Yamada K, Watanabe S, Yokochi K, Wakamatsu N
Am J Med Genet A 2017 Aug;173(8):2201-2209. Epub 2017 Jun 9 doi: 10.1002/ajmg.a.38313. PMID: 28599099
Oliveira R, Dória S, Madureira C, Lima V, Almeida C, Pinho MJ, Ramalho C, Matoso E, Barros A, Carreira IM, Moura CP
Gene 2013 Mar 15;517(1):120-4. Epub 2012 Dec 20 doi: 10.1016/j.gene.2012.12.045. PMID: 23266646
Dierlamm J, Michaux L, Criel A, Wlodarska I, Van den Berghe H, Hossfeld DK
Cancer Genet Cytogenet 1997 Mar;94(1):27-35. doi: 10.1016/s0165-4608(96)00246-4. PMID: 9078288

Therapy

Sasaki T, Okabe M, Tosaki T, Honda Y, Ishikawa M, Tsuboi N, Yokoo T
CEN Case Rep 2018 Nov;7(2):253-258. Epub 2018 May 16 doi: 10.1007/s13730-018-0337-y. PMID: 29766469Free PMC Article
Makunin AI, Kichigin IG, Larkin DM, O'Brien PC, Ferguson-Smith MA, Yang F, Proskuryakova AA, Vorobieva NV, Chernyaeva EN, O'Brien SJ, Graphodatsky AS, Trifonov VA
BMC Genomics 2016 Aug 11;17(1):618. doi: 10.1186/s12864-016-2933-6. PMID: 27516089Free PMC Article
Meyer zu Hörste G, Prukop T, Nave KA, Sereda MW
J Mol Neurosci 2006;28(1):77-88. doi: 10.1385/jmn:28:1:77. PMID: 16632877
Schnittger S, Kinkelin U, Schoch C, Heinecke A, Haase D, Haferlach T, Büchner T, Wörmann B, Hiddemann W, Griesinger F
Leukemia 2000 May;14(5):796-804. doi: 10.1038/sj.leu.2401773. PMID: 10803509
Glusman G, Sosinsky A, Ben-Asher E, Avidan N, Sonkin D, Bahar A, Rosenthal A, Clifton S, Roe B, Ferraz C, Demaille J, Lancet D
Genomics 2000 Jan 15;63(2):227-45. doi: 10.1006/geno.1999.6030. PMID: 10673334

Prognosis

Wesner N, Drevon L, Guedon A, Fraison JB, Trad S, Kahn JE, Aouba A, Gillard J, Ponsoye M, Hanslik T, Gourguechon C, Liozon E, Laribi K, Rossignol J, Hermine O, Adès L, Carrat F, Fenaux P, Mekinian A, Fain O; GFM, MINHEMON (French Network of Dysimmune Disorders Associated to Hemopathies)
Eur J Haematol 2019 Jan;102(1):63-69. Epub 2018 Nov 14 doi: 10.1111/ejh.13174. PMID: 30218579
Oliveira R, Dória S, Madureira C, Lima V, Almeida C, Pinho MJ, Ramalho C, Matoso E, Barros A, Carreira IM, Moura CP
Gene 2013 Mar 15;517(1):120-4. Epub 2012 Dec 20 doi: 10.1016/j.gene.2012.12.045. PMID: 23266646
Buganim Y, Goldstein I, Lipson D, Milyavsky M, Polak-Charcon S, Mardoukh C, Solomon H, Kalo E, Madar S, Brosh R, Perelman M, Navon R, Goldfinger N, Barshack I, Yakhini Z, Rotter V
PLoS One 2010 Mar 11;5(3):e9657. doi: 10.1371/journal.pone.0009657. PMID: 20300178Free PMC Article
Panani AD, Pappa V
In Vivo 2005 Nov-Dec;19(6):979-81. PMID: 16277010
Dierlamm J, Michaux L, Criel A, Wlodarska I, Van den Berghe H, Hossfeld DK
Cancer Genet Cytogenet 1997 Mar;94(1):27-35. doi: 10.1016/s0165-4608(96)00246-4. PMID: 9078288

Clinical prediction guides

de Wergifosse S, Bevilacqua E, Mezela I, El Haddad S, Gounongbe C, de Marchin J, Maggi V, Conotte S, Badr DA, Fils JF, Guizani M, Jani JC
J Matern Fetal Neonatal Med 2021 Nov;34(21):3552-3561. Epub 2019 Nov 13 doi: 10.1080/14767058.2019.1686478. PMID: 31722585
Lee MJ, Park SH, Shim SH, Moon MJ, Cha DH
Taiwan J Obstet Gynecol 2019 May;58(3):318-323. doi: 10.1016/j.tjog.2019.03.005. PMID: 31122516
Oliveira R, Dória S, Madureira C, Lima V, Almeida C, Pinho MJ, Ramalho C, Matoso E, Barros A, Carreira IM, Moura CP
Gene 2013 Mar 15;517(1):120-4. Epub 2012 Dec 20 doi: 10.1016/j.gene.2012.12.045. PMID: 23266646
Miura K, Yoshiura K, Miura S, Kondoh T, Harada N, Yamasaki K, Fujimoto Y, Yamasaki Y, Tanigawa T, Kitajima Y, Shimada T, Yoshida A, Nakayama D, Tagawa M, Yoshimura S, Wagstaff J, Jinno Y, Ishimaru T, Niikawa N, Masuzaki H
Am J Med Genet A 2006 Sep 1;140A(17):1827-33. doi: 10.1002/ajmg.a.31389. PMID: 16892301
Scheffer H, Kruize YC, Osinga J, Kuiken G, Oosterhuis JW, Leeuw JA, Schraffordt Koops H, Buys CH
Cancer Genet Cytogenet 1991 May;53(1):45-55. doi: 10.1016/0165-4608(91)90113-9. PMID: 2036639

Recent systematic reviews

Dirvanskyte P, Gurram B, Bolton C, Warner N, Jones KDJ, Griffin HR; Genomics England Research Consortium, Park JY, Keller KM, Gilmour KC, Hambleton S, Muise AM, Wysocki C, Uhlig HH
J Crohns Colitis 2023 Jan 27;17(1):49-60. doi: 10.1093/ecco-jcc/jjac103. PMID: 35907265Free PMC Article

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