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Monosomy 16

MedGen UID:
307797
•Concept ID:
C1513479
•
Cell or Molecular Dysfunction

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMonosomy 16

Professional guidelines

PubMed

Diagnostic testing after positive results on cell free DNA screening: CVS or Amnio?
Mardy AH, Norton ME
Prenat Diagn 2021 Sep;41(10):1249-1254. Epub 2021 Aug 25 doi: 10.1002/pd.6021. PMID: 34386984
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study,, Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R
Genet Med 2019 Apr;21(4):850-860. Epub 2018 Sep 24 doi: 10.1038/s41436-018-0259-2. PMID: 30245513Free PMC Article
Diagnosis and clinical management of embryonic mosaicism.
Sachdev NM, Maxwell SM, Besser AG, Grifo JA
Fertil Steril 2017 Jan;107(1):6-11. Epub 2016 Nov 11 doi: 10.1016/j.fertnstert.2016.10.006. PMID: 27842993

Recent clinical studies

Etiology

Homozygous BCMA gene deletion in response to anti-BCMA CAR T cells in a patient with multiple myeloma.
Da Vià MC, Dietrich O, Truger M, Arampatzi P, Duell J, Heidemeier A, Zhou X, Danhof S, Kraus S, Chatterjee M, Meggendorfer M, Twardziok S, Goebeler ME, Topp MS, Hudecek M, Prommersberger S, Hege K, Kaiser S, Fuhr V, Weinhold N, Rosenwald A, Erhard F, Haferlach C, Einsele H, Kortüm KM, Saliba AE, Rasche L
Nat Med 2021 Apr;27(4):616-619. Epub 2021 Feb 22 doi: 10.1038/s41591-021-01245-5. PMID: 33619368
Prognostic Implications of Monosomies in Patients With Multiple Myeloma.
Shin SY, Eom HS, Sohn JY, Lee H, Park B, Joo J, Jang JH, Lee MN, Kim JK, Kong SY
Clin Lymphoma Myeloma Leuk 2017 Mar;17(3):159-164.e2. Epub 2016 Dec 26 doi: 10.1016/j.clml.2016.12.001. PMID: 28089441
Lack of aneuploidy for chromosomes 15, 16, and 18 in placentas from small-for-gestational-age liveborn infants.
Papadogiannakis N, Iwarsson E, Taimi T, Zaphiropoulos PG, Westgren M
Am J Obstet Gynecol 2008 Feb;198(2):231.e1-7. Epub 2007 Nov 13 doi: 10.1016/j.ajog.2007.08.027. PMID: 17997390
Monosomy 16 as the sole abnormality in myeloid malignancies.
McGhee EM, Cohen NR, Wolf JL, Ledesma CT, Cotter PD
Cancer Genet Cytogenet 2000 Apr 15;118(2):163-6. doi: 10.1016/s0165-4608(99)00194-6. PMID: 10748300
Aneuploidy 16 in human embryos increases significantly with maternal age.
Benadiva CA, Kligman I, Munné S
Fertil Steril 1996 Aug;66(2):248-55. PMID: 8690111

Diagnosis

Myeloid Sarcoma.
Magdy M, Abdel Karim N, Eldessouki I, Gaber O, Rahouma M, Ghareeb M
Oncol Res Treat 2019;42(4):224-229. Epub 2019 Mar 6 doi: 10.1159/000497210. PMID: 30840960
New cytogenetic aberrations found in a case of aggressive retinoblastoma.
Barros JE, Soares-Ventura EM, Santos N, Amaral BA, Oliveira FM, Vera Cruz RS, Morais VL, Marques-Salles TJ, Muniz MT
Genet Mol Res 2012 Jun 15;11(2):1666-70. doi: 10.4238/2012.June.15.16. PMID: 22782586
CGH in the detection of confined placental mosaicism (CPM) in placentas of abnormal pregnancies.
Amiel A, Bouaron N, Kidron D, Sharony R, Gaber E, Fejgin MD
Prenat Diagn 2002 Sep;22(9):752-8. doi: 10.1002/pd.398. PMID: 12224065
Hemizygous deletions of chromosome band 16q24 in Wilms tumor: detection by fluorescence in situ hybridization.
Shearer PD, Valentine MB, Grundy P, DeCou JM, Banavali SD, Komuro H, Green DM, Beckwith JB, Look AT
Cancer Genet Cytogenet 1999 Dec;115(2):100-5. doi: 10.1016/s0165-4608(99)00093-x. PMID: 10598141
Aneuploidy 16 in human embryos increases significantly with maternal age.
Benadiva CA, Kligman I, Munné S
Fertil Steril 1996 Aug;66(2):248-55. PMID: 8690111

Therapy

Homozygous BCMA gene deletion in response to anti-BCMA CAR T cells in a patient with multiple myeloma.
Da Vià MC, Dietrich O, Truger M, Arampatzi P, Duell J, Heidemeier A, Zhou X, Danhof S, Kraus S, Chatterjee M, Meggendorfer M, Twardziok S, Goebeler ME, Topp MS, Hudecek M, Prommersberger S, Hege K, Kaiser S, Fuhr V, Weinhold N, Rosenwald A, Erhard F, Haferlach C, Einsele H, Kortüm KM, Saliba AE, Rasche L
Nat Med 2021 Apr;27(4):616-619. Epub 2021 Feb 22 doi: 10.1038/s41591-021-01245-5. PMID: 33619368
Myeloid Sarcoma.
Magdy M, Abdel Karim N, Eldessouki I, Gaber O, Rahouma M, Ghareeb M
Oncol Res Treat 2019;42(4):224-229. Epub 2019 Mar 6 doi: 10.1159/000497210. PMID: 30840960
Chromosome studies in untreated polycythaemia vera.
Westin J, Wahlström J, Swolin B
Scand J Haematol 1976 Sep;17(3):183-96. doi: 10.1111/j.1600-0609.1976.tb01174.x. PMID: 968448

Prognosis

Prognostic Implications of Monosomies in Patients With Multiple Myeloma.
Shin SY, Eom HS, Sohn JY, Lee H, Park B, Joo J, Jang JH, Lee MN, Kim JK, Kong SY
Clin Lymphoma Myeloma Leuk 2017 Mar;17(3):159-164.e2. Epub 2016 Dec 26 doi: 10.1016/j.clml.2016.12.001. PMID: 28089441
Monosomy 16 as the sole abnormality in myeloid malignancies.
McGhee EM, Cohen NR, Wolf JL, Ledesma CT, Cotter PD
Cancer Genet Cytogenet 2000 Apr 15;118(2):163-6. doi: 10.1016/s0165-4608(99)00194-6. PMID: 10748300
Aneuploidy 16 in human embryos increases significantly with maternal age.
Benadiva CA, Kligman I, Munné S
Fertil Steril 1996 Aug;66(2):248-55. PMID: 8690111
Chromosome studies in untreated polycythaemia vera.
Westin J, Wahlström J, Swolin B
Scand J Haematol 1976 Sep;17(3):183-96. doi: 10.1111/j.1600-0609.1976.tb01174.x. PMID: 968448

Clinical prediction guides

The Retinal Pigment Epithelial Cell Line (ARPE-19) Displays Mosaic Structural Chromosomal Aberrations.
Fasler-Kan E, Aliu N, Wunderlich K, Ketterer S, Ruggiero S, Berger S, Meyer P
Methods Mol Biol 2018;1745:305-314. doi: 10.1007/978-1-4939-7680-5_17. PMID: 29476476
Lack of aneuploidy for chromosomes 15, 16, and 18 in placentas from small-for-gestational-age liveborn infants.
Papadogiannakis N, Iwarsson E, Taimi T, Zaphiropoulos PG, Westgren M
Am J Obstet Gynecol 2008 Feb;198(2):231.e1-7. Epub 2007 Nov 13 doi: 10.1016/j.ajog.2007.08.027. PMID: 17997390
Molecular approach to common causes of female infertility.
Simpson JL
Best Pract Res Clin Obstet Gynaecol 2002 Oct;16(5):685-702. doi: 10.1053/beog.2002.0317. PMID: 12475548
Lesions of 13q may occur independently of deletion of 16q in spindle cell/pleomorphic lipomas.
Dal Cin P, Sciot R, Polito P, Stas M, de Wever I, Cornelis A, Van den Berghe H
Histopathology 1997 Sep;31(3):222-5. doi: 10.1046/j.1365-2559.1997.2450851.x. PMID: 9354891
Nonrandom chromosomal changes in retinoblastomas.
Pogosianz HE, Kuznetsova LE
Arch Geschwulstforsch 1986;56(2):135-43. PMID: 3707294

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