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Autosomal monosomy

MedGen UID:
977694
•Concept ID:
CN293936
•
Disease or Syndrome
Synonym: Autosomal deletion
 
Orphanet: ORPHA102020

Professional guidelines

PubMed

Incidental Detection of Maternal Malignancy by Fetal Cell-Free DNA Screening.
Rink BD, Stevens BK, Norton ME
Obstet Gynecol 2022 Jul 1;140(1):121-131. Epub 2022 Jun 7 doi: 10.1097/AOG.0000000000004833. PMID: 35849469
Should embryos with autosomal monosomy by preimplantation genetic testing for aneuploidy be transferred?: Implications for embryo selection from a systematic literature review of autosomal monosomy survivors.
Bunnell ME, Wilkins-Haug L, Reiss R
Prenat Diagn 2017 Dec;37(13):1273-1280. doi: 10.1002/pd.5185. PMID: 29164644
Follow-up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling.
Snyder HL, Curnow KJ, Bhatt S, Bianchi DW
Prenat Diagn 2016 Mar;36(3):203-9. Epub 2016 Feb 8 doi: 10.1002/pd.4778. PMID: 26785403Free PMC Article

Recent clinical studies

Etiology

Chorionic Villous Testing Versus Amniocentesis After Abnormal Noninvasive Prenatal Testing.
Rogers R, Mardy A
Clin Obstet Gynecol 2023 Sep 1;66(3):595-606. Epub 2023 Jul 17 doi: 10.1097/GRF.0000000000000801. PMID: 37650670
Incidental Detection of Maternal Malignancy by Fetal Cell-Free DNA Screening.
Rink BD, Stevens BK, Norton ME
Obstet Gynecol 2022 Jul 1;140(1):121-131. Epub 2022 Jun 7 doi: 10.1097/AOG.0000000000004833. PMID: 35849469
Cell-free DNA analysis in maternal blood: comparing genome-wide versus targeted approach as a first-line screening test.
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
Should embryos with autosomal monosomy by preimplantation genetic testing for aneuploidy be transferred?: Implications for embryo selection from a systematic literature review of autosomal monosomy survivors.
Bunnell ME, Wilkins-Haug L, Reiss R
Prenat Diagn 2017 Dec;37(13):1273-1280. doi: 10.1002/pd.5185. PMID: 29164644
Chromosome anomalies in early human embryos.
Angell RR, Hillier SG, West JD, Glasier AF, Rodger MW, Baird DT
J Reprod Fertil Suppl 1988;36:73-81. PMID: 3193408

Diagnosis

Chorionic Villous Testing Versus Amniocentesis After Abnormal Noninvasive Prenatal Testing.
Rogers R, Mardy A
Clin Obstet Gynecol 2023 Sep 1;66(3):595-606. Epub 2023 Jul 17 doi: 10.1097/GRF.0000000000000801. PMID: 37650670
Incidental Detection of Maternal Malignancy by Fetal Cell-Free DNA Screening.
Rink BD, Stevens BK, Norton ME
Obstet Gynecol 2022 Jul 1;140(1):121-131. Epub 2022 Jun 7 doi: 10.1097/AOG.0000000000004833. PMID: 35849469
Cell-free DNA analysis in maternal blood: comparing genome-wide versus targeted approach as a first-line screening test.
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
Decitabine improves progression-free survival in older high-risk MDS patients with multiple autosomal monosomies: results of a subgroup analysis of the randomized phase III study 06011 of the EORTC Leukemia Cooperative Group and German MDS Study Group.
Lübbert M, Suciu S, Hagemeijer A, Rüter B, Platzbecker U, Giagounidis A, Selleslag D, Labar B, Germing U, Salih HR, Muus P, Pflüger KH, Schaefer HE, Bogatyreva L, Aul C, de Witte T, Ganser A, Becker H, Huls G, van der Helm L, Vellenga E, Baron F, Marie JP, Wijermans PW; EORTC Leukemia Group and the German MDS Study Group
Ann Hematol 2016 Jan;95(2):191-9. Epub 2015 Nov 23 doi: 10.1007/s00277-015-2547-0. PMID: 26596971
Application of molecular and cytogenetic techniques to the detection of a de novo unbalanced t(11q;21q) in a patient previously diagnosed as having monosomy 21.
Hertz B, Brandt CA, Petersen MB, Pedersen S, König U, Strømkjaer H, Jensen PK
Clin Genet 1993 Aug;44(2):89-94. doi: 10.1111/j.1399-0004.1993.tb03853.x. PMID: 7506129

Therapy

Decitabine improves progression-free survival in older high-risk MDS patients with multiple autosomal monosomies: results of a subgroup analysis of the randomized phase III study 06011 of the EORTC Leukemia Cooperative Group and German MDS Study Group.
Lübbert M, Suciu S, Hagemeijer A, Rüter B, Platzbecker U, Giagounidis A, Selleslag D, Labar B, Germing U, Salih HR, Muus P, Pflüger KH, Schaefer HE, Bogatyreva L, Aul C, de Witte T, Ganser A, Becker H, Huls G, van der Helm L, Vellenga E, Baron F, Marie JP, Wijermans PW; EORTC Leukemia Group and the German MDS Study Group
Ann Hematol 2016 Jan;95(2):191-9. Epub 2015 Nov 23 doi: 10.1007/s00277-015-2547-0. PMID: 26596971
Monosomal karyotypes among 1147 Chinese patients with acute myeloid leukemia: prevalence, features and prognostic impact.
Yang XF, Sun AN, Yin J, Cai CS, Tian XP, Qian J, Chen SN, Wu DP
Asian Pac J Cancer Prev 2012;13(11):5421-6. doi: 10.7314/apjcp.2012.13.11.5421. PMID: 23317194
Autosomal monosomy mosaicism in human bone marrow aspirate. Report of a case.
Long DL, Pierre RV
Am J Clin Pathol 1968 Oct;50(4):482-4. doi: 10.1093/ajcp/50.4.482. PMID: 5676342

Prognosis

Mutational Landscape and Gene Expression Patterns in Adult Acute Myeloid Leukemias with Monosomy 7 as a Sole Abnormality.
Eisfeld AK, Kohlschmidt J, Mrózek K, Volinia S, Blachly JS, Nicolet D, Oakes C, Kroll K, Orwick S, Carroll AJ, Stone RM, Byrd JC, de la Chapelle A, Bloomfield CD
Cancer Res 2017 Jan 1;77(1):207-218. Epub 2016 Oct 26 doi: 10.1158/0008-5472.CAN-16-1386. PMID: 27784745Free PMC Article
Follow-up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling.
Snyder HL, Curnow KJ, Bhatt S, Bianchi DW
Prenat Diagn 2016 Mar;36(3):203-9. Epub 2016 Feb 8 doi: 10.1002/pd.4778. PMID: 26785403Free PMC Article
Monosomal karyotypes among 1147 Chinese patients with acute myeloid leukemia: prevalence, features and prognostic impact.
Yang XF, Sun AN, Yin J, Cai CS, Tian XP, Qian J, Chen SN, Wu DP
Asian Pac J Cancer Prev 2012;13(11):5421-6. doi: 10.7314/apjcp.2012.13.11.5421. PMID: 23317194
Monosomal karyotype in acute myeloid leukemia: a better indicator of poor prognosis than a complex karyotype.
Breems DA, Van Putten WL, De Greef GE, Van Zelderen-Bhola SL, Gerssen-Schoorl KB, Mellink CH, Nieuwint A, Jotterand M, Hagemeijer A, Beverloo HB, Löwenberg B
J Clin Oncol 2008 Oct 10;26(29):4791-7. Epub 2008 Aug 11 doi: 10.1200/JCO.2008.16.0259. PMID: 18695255
Application of molecular and cytogenetic techniques to the detection of a de novo unbalanced t(11q;21q) in a patient previously diagnosed as having monosomy 21.
Hertz B, Brandt CA, Petersen MB, Pedersen S, König U, Strømkjaer H, Jensen PK
Clin Genet 1993 Aug;44(2):89-94. doi: 10.1111/j.1399-0004.1993.tb03853.x. PMID: 7506129

Clinical prediction guides

Cell-free DNA analysis in maternal blood: comparing genome-wide versus targeted approach as a first-line screening test.
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
Monosomal karyotype in acute myeloid leukemia: a better indicator of poor prognosis than a complex karyotype.
Breems DA, Van Putten WL, De Greef GE, Van Zelderen-Bhola SL, Gerssen-Schoorl KB, Mellink CH, Nieuwint A, Jotterand M, Hagemeijer A, Beverloo HB, Löwenberg B
J Clin Oncol 2008 Oct 10;26(29):4791-7. Epub 2008 Aug 11 doi: 10.1200/JCO.2008.16.0259. PMID: 18695255
Impact of parental gonosomal mosaicism detected in peripheral blood on preimplantation embryos.
Magli MC, Gianaroli L, Ferraretti AP, Gordts S, Feliciani E
Reprod Biomed Online 2002 Nov-Dec;5(3):306-12. doi: 10.1016/s1472-6483(10)61837-8. PMID: 12470531
Nature and consequences of induced chromosome damage in mammals.
Searle AG
Genetics 1974 Sep;78(1):173-86. doi: 10.1093/genetics/78.1.173. PMID: 4442701Free PMC Article

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