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Monosomy 9

MedGen UID:
307799
•Concept ID:
C1513485
•
Cell or Molecular Dysfunction

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMonosomy 9

Professional guidelines

PubMed

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, Mahillo-Fernandez I, Moreno B, Rodrigo-Moreno M, Casas-Alba D, Lopez-Gonzalez A, García-Miñaúr S, Ángeles Mori M, Pacio-Minguez M, Rikeros-Orozco E, Santos-Simarro F, Cruz-Rojo J, Quesada-Espinosa JF, Sanchez-Calvin MT, Sanchez-Del Pozo J, Bernado Fonz R, Isidoro-Garcia M, Ruiz-Ayucar I, Alvarez-Mora MI, Blanco-Lago R, De Azua B, Eiris J, Garcia-Peñas JJ, Gil-Fournier B, Gomez-Lado C, Irazabal N, Lopez-Gonzalez V, Madrigal I, Malaga I, Martinez-Menendez B, Ramiro-Leon S, Garcia-Hoyos M, Prieto-Matos P, Lopez-Pison J, Aguilera-Albesa S, Alvarez S, Fernández-Jaén A, Llano-Rivas I, Gener-Querol B, Ayuso C, Arteche-Lopez A, Palomares-Bralo M, Cueto-González A, Valenzuela I, Martinez-Monseny A, Lorda-Sanchez I, Almoguera B
J Med Genet 2023 Jul;60(7):644-654. Epub 2022 Nov 29 doi: 10.1136/jmg-2022-108632. PMID: 36446582
Genotype-phenotype correlation in Phelan-McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes.
Ricciardello A, Tomaiuolo P, Persico AM
Am J Med Genet A 2021 Jul;185(7):2211-2233. Epub 2021 May 5 doi: 10.1002/ajmg.a.62222. PMID: 33949759Free PMC Article
Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure.
Sato T, Sugiura-Ogasawara M, Ozawa F, Yamamoto T, Kato T, Kurahashi H, Kuroda T, Aoyama N, Kato K, Kobayashi R, Fukuda A, Utsunomiya T, Kuwahara A, Saito H, Takeshita T, Irahara M
Hum Reprod 2019 Dec 1;34(12):2340-2348. doi: 10.1093/humrep/dez229. PMID: 31811307

Recent clinical studies

Etiology

Hypodiploidy has unfavorable impact on survival in pediatric acute myeloid leukemia: an I-BFM Study Group collaboration.
Hammer ASB, Juul-Dam KL, Sandahl JD, Abrahamsson J, Czogala M, Delabesse E, Haltrich I, Jahnukainen K, Kolb EA, Kovács G, Leverger G, Locatelli F, Masetti R, Noren-Nyström U, Raimondi SC, Rasche M, Reinhardt D, Taki T, Tomizawa D, Zeller B, Hasle H, Kjeldsen E
Blood Adv 2023 Mar 28;7(6):1045-1055. doi: 10.1182/bloodadvances.2022008251. PMID: 36332007Free PMC Article
Monosomy of Chromosome 9 Is Associated With Higher Grade, Advanced Stage, and Adverse Outcome in Clear-cell Renal Cell Carcinoma.
Nejati R, Wei S, Uzzo RG, Poureghbali S, Pei J, Talarchek JN, Ruth K, Dulaimi E, Kutikov A, Testa JR, Al-Saleem T
Clin Genitourin Cancer 2020 Feb;18(1):56-61. Epub 2019 Sep 26 doi: 10.1016/j.clgc.2019.09.016. PMID: 31648964Free PMC Article
Aberrations of chromosomes 9 and 22 in acute lymphoblastic leukemia cases detected by ES-fluorescence in situ hybridization.
Cetin Z, Yakut S, Karadogan I, Kupesiz A, Timuragaoglu A, Salim O, Tezcan G, Alanoglu G, Ozbalci D, Hazar V, Yesilipek MA, Undar L, Luleci G, Berker S
Genet Test Mol Biomarkers 2012 May;16(5):318-23. Epub 2012 Feb 23 doi: 10.1089/gtmb.2011.0186. PMID: 22360868
Numerical aberrations of chromosomes 9 and 11 detected by FISH in Greek bladder cancer patients.
Panani AD, Babanaraki A, Malianga E, Roussos Ch
Anticancer Res 2004 Nov-Dec;24(6):3857-61. PMID: 15736422
Chromosome 9 aberrations by fluorescence in situ hybridisation in bladder transitional cell carcinoma.
Eleuteri P, Grollino MG, Pomponi D, De Vita R
Eur J Cancer 2001 Aug;37(12):1496-503. doi: 10.1016/s0959-8049(01)00151-4. PMID: 11506956

Diagnosis

Hypodiploidy has unfavorable impact on survival in pediatric acute myeloid leukemia: an I-BFM Study Group collaboration.
Hammer ASB, Juul-Dam KL, Sandahl JD, Abrahamsson J, Czogala M, Delabesse E, Haltrich I, Jahnukainen K, Kolb EA, Kovács G, Leverger G, Locatelli F, Masetti R, Noren-Nyström U, Raimondi SC, Rasche M, Reinhardt D, Taki T, Tomizawa D, Zeller B, Hasle H, Kjeldsen E
Blood Adv 2023 Mar 28;7(6):1045-1055. doi: 10.1182/bloodadvances.2022008251. PMID: 36332007Free PMC Article
Ring chromosome formation by intra-strand repairing of subtelomeric double stand breaks and clinico-cytogenomic correlations for ring chromosome 9.
Chai H, Ji W, Wen J, DiAdamo A, Grommisch B, Hu Q, Szekely AM, Li P
Am J Med Genet A 2020 Dec;182(12):3023-3028. Epub 2020 Sep 26 doi: 10.1002/ajmg.a.61890. PMID: 32978894
Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature.
la Cour Sibbesen E, Jespersgaard C, Alosi D, Bisgaard AM, Tümer Z
Am J Med Genet A 2013 Jun;161A(6):1447-52. Epub 2013 Apr 30 doi: 10.1002/ajmg.a.35901. PMID: 23633410
Nephrogenic adenoma in renal transplant recipients: a truly benign lesion?
Pycha A, Mian C, Reiter WJ, Brössner C, Haitel A, Wiener H, Maier U, Marberger M
Urology 1998 Nov;52(5):756-61. doi: 10.1016/s0090-4295(98)00371-9. PMID: 9801094
Fluorescence in situ hybridization identifies more aggressive types of primarily noninvasive (stage pTa) bladder cancer.
Pycha A, Mian C, Haitel A, Hofbauer J, Wiener H, Marberger M
J Urol 1997 Jun;157(6):2116-9. PMID: 9146595

Therapy

Concurrent gain of 17q and the MYC oncogene in a medullomyoblastoma.
Lindberg E, Persson A, Øra I, Mertens F, Englund E, Gisselsson D
Neuropathology 2007 Dec;27(6):556-60. doi: 10.1111/j.1440-1789.2007.00810.x. PMID: 18021376
Numerical aberrations of chromosomes 9 and 11 detected by FISH in Greek bladder cancer patients.
Panani AD, Babanaraki A, Malianga E, Roussos Ch
Anticancer Res 2004 Nov-Dec;24(6):3857-61. PMID: 15736422
Nephrogenic adenoma in renal transplant recipients: a truly benign lesion?
Pycha A, Mian C, Reiter WJ, Brössner C, Haitel A, Wiener H, Maier U, Marberger M
Urology 1998 Nov;52(5):756-61. doi: 10.1016/s0090-4295(98)00371-9. PMID: 9801094

Prognosis

Hypodiploidy has unfavorable impact on survival in pediatric acute myeloid leukemia: an I-BFM Study Group collaboration.
Hammer ASB, Juul-Dam KL, Sandahl JD, Abrahamsson J, Czogala M, Delabesse E, Haltrich I, Jahnukainen K, Kolb EA, Kovács G, Leverger G, Locatelli F, Masetti R, Noren-Nyström U, Raimondi SC, Rasche M, Reinhardt D, Taki T, Tomizawa D, Zeller B, Hasle H, Kjeldsen E
Blood Adv 2023 Mar 28;7(6):1045-1055. doi: 10.1182/bloodadvances.2022008251. PMID: 36332007Free PMC Article
Monosomy of Chromosome 9 Is Associated With Higher Grade, Advanced Stage, and Adverse Outcome in Clear-cell Renal Cell Carcinoma.
Nejati R, Wei S, Uzzo RG, Poureghbali S, Pei J, Talarchek JN, Ruth K, Dulaimi E, Kutikov A, Testa JR, Al-Saleem T
Clin Genitourin Cancer 2020 Feb;18(1):56-61. Epub 2019 Sep 26 doi: 10.1016/j.clgc.2019.09.016. PMID: 31648964Free PMC Article
Concurrent gain of 17q and the MYC oncogene in a medullomyoblastoma.
Lindberg E, Persson A, Øra I, Mertens F, Englund E, Gisselsson D
Neuropathology 2007 Dec;27(6):556-60. doi: 10.1111/j.1440-1789.2007.00810.x. PMID: 18021376
A role for chromosome 9p21 deletions in the malignant progression of meningiomas and the prognosis of anaplastic meningiomas.
Perry A, Banerjee R, Lohse CM, Kleinschmidt-DeMasters BK, Scheithauer BW
Brain Pathol 2002 Apr;12(2):183-90. doi: 10.1111/j.1750-3639.2002.tb00433.x. PMID: 11958372Free PMC Article
Chromosome 9 aberrations by fluorescence in situ hybridisation in bladder transitional cell carcinoma.
Eleuteri P, Grollino MG, Pomponi D, De Vita R
Eur J Cancer 2001 Aug;37(12):1496-503. doi: 10.1016/s0959-8049(01)00151-4. PMID: 11506956

Clinical prediction guides

Detection of numerical abnormalities of chromosome 9 and p16/CDKN2A gene alterations in ovarian cancer with fish analysis.
Aravidis C, Panani AD, Kosmaidou Z, Thomakos N, Rodolakis A, Antsaklis A
Anticancer Res 2012 Dec;32(12):5309-13. PMID: 23225431
Aberrations of chromosomes 9 and 22 in acute lymphoblastic leukemia cases detected by ES-fluorescence in situ hybridization.
Cetin Z, Yakut S, Karadogan I, Kupesiz A, Timuragaoglu A, Salim O, Tezcan G, Alanoglu G, Ozbalci D, Hazar V, Yesilipek MA, Undar L, Luleci G, Berker S
Genet Test Mol Biomarkers 2012 May;16(5):318-23. Epub 2012 Feb 23 doi: 10.1089/gtmb.2011.0186. PMID: 22360868
Numerical aberrations of chromosomes 9 and 11 detected by FISH in Greek bladder cancer patients.
Panani AD, Babanaraki A, Malianga E, Roussos Ch
Anticancer Res 2004 Nov-Dec;24(6):3857-61. PMID: 15736422
Chromosome 9 aberrations by fluorescence in situ hybridisation in bladder transitional cell carcinoma.
Eleuteri P, Grollino MG, Pomponi D, De Vita R
Eur J Cancer 2001 Aug;37(12):1496-503. doi: 10.1016/s0959-8049(01)00151-4. PMID: 11506956
Loss of heterozygosity on chromosome 9 and loss of chromosome 9 copy number are separate events in the pathogenesis of transitional cell carcinoma of the bladder.
Van Tilborg AA, Hekman AC, Vissers KJ, van der Kwast TH, Zwarthoff EC
Int J Cancer 1998 Jan 5;75(1):9-14. doi: 10.1002/(sici)1097-0215(19980105)75:1<9::aid-ijc2>3.0.co;2-1. PMID: 9426683

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