U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Monosomy

MedGen UID:
6432
Concept ID:
C0026499
Congenital Abnormality
Synonym: Monosomies
SNOMED CT: Monosomy (86277003); Whole chromosome depletion (86277003)
 
Monarch Initiative: MONDO:0020639

Definition

A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number. [from NCI]

Professional guidelines

PubMed

Mardy AH, Norton ME
Prenat Diagn 2021 Sep;41(10):1249-1254. Epub 2021 Aug 25 doi: 10.1002/pd.6021. PMID: 34386984
Ishizuka B
Front Endocrinol (Lausanne) 2021;12:626924. Epub 2021 Feb 25 doi: 10.3389/fendo.2021.626924. PMID: 33716979Free PMC Article
Viotti M
Genes (Basel) 2020 May 29;11(6) doi: 10.3390/genes11060602. PMID: 32485954Free PMC Article

Recent clinical studies

Etiology

Mardy AH, Norton ME
Prenat Diagn 2021 Sep;41(10):1249-1254. Epub 2021 Aug 25 doi: 10.1002/pd.6021. PMID: 34386984
Inaba T, Honda H, Matsui H
Blood 2018 Jun 28;131(26):2891-2898. Epub 2018 Apr 3 doi: 10.1182/blood-2017-12-822262. PMID: 29615405
Locatelli F, Strahm B
Blood 2018 Mar 29;131(13):1406-1414. Epub 2018 Feb 8 doi: 10.1182/blood-2017-09-765214. PMID: 29438960
Franasiak JM, Forman EJ, Hong KH, Werner MD, Upham KM, Treff NR, Scott RT Jr
Fertil Steril 2014 Mar;101(3):656-663.e1. Epub 2013 Dec 17 doi: 10.1016/j.fertnstert.2013.11.004. PMID: 24355045
Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, Zackai EH, Deardorff MA, Krantz ID, Hakonarson H, Spinner NB
Hum Mol Genet 2010 Apr 1;19(7):1263-75. Epub 2010 Jan 6 doi: 10.1093/hmg/ddq003. PMID: 20053666Free PMC Article

Diagnosis

Lim SD, Kim SI, Park JW, Won JK, Kim SK, Phi JH, Chung CK, Choi SH, Yun H, Park SH
Brain Tumor Pathol 2022 Apr;39(2):65-78. Epub 2022 Jan 20 doi: 10.1007/s10014-021-00420-3. PMID: 35048219
Battaglia A, Carey JC, South ST
Am J Med Genet C Semin Med Genet 2015 Sep;169(3):216-23. Epub 2015 Aug 4 doi: 10.1002/ajmg.c.31449. PMID: 26239400
Vujović S, Ivović M, Tancić-Gajić M, Marina L, Barać M, Arizanović Z, Nenezić A, Ivanisević M, Micić J, Sajić S, Micić D
Srp Arh Celok Lek 2012 Nov-Dec;140(11-12):806-11. PMID: 23350261
Keyvanfar K, Weed J, Swamy P, Kajigaya S, Calado RT, Young NS
Blood 2012 Oct 11;120(15):e54-9. Epub 2012 Aug 29 doi: 10.1182/blood-2012-05-434266. PMID: 22932794Free PMC Article
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article

Therapy

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
Dogrusöz M, Jager MJ
Acta Ophthalmol 2018 Jun;96(4):331-347. Epub 2017 Nov 4 doi: 10.1111/aos.13580. PMID: 29105334
Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH
Ultrasound Obstet Gynecol 2017 Sep;50(3):302-314. Epub 2017 Jul 27 doi: 10.1002/uog.17484. PMID: 28397325
Grimm SA, Chamberlain MC
CNS Oncol 2016 Jul;5(3):145-57. Epub 2016 May 27 doi: 10.2217/cns-2016-0002. PMID: 27230974Free PMC Article
Kesler SR
Child Adolesc Psychiatr Clin N Am 2007 Jul;16(3):709-22. doi: 10.1016/j.chc.2007.02.004. PMID: 17562588Free PMC Article

Prognosis

Rishi P, Koundanya VV, Shields CL
Indian J Ophthalmol 2015 Feb;63(2):110-6. doi: 10.4103/0301-4738.154373. PMID: 25827540Free PMC Article
Bondy CA, Hougen HY, Zhou J, Cheng CM
Pediatr Endocrinol Rev 2012 May;9 Suppl 2:728-32. PMID: 22946286
Haase D
Ann Hematol 2008 Jul;87(7):515-26. Epub 2008 Apr 15 doi: 10.1007/s00277-008-0483-y. PMID: 18414863Free PMC Article
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article
Cotter FE
Baillieres Clin Haematol 1998 Dec;11(4):875-98. doi: 10.1016/s0950-3536(98)80044-9. PMID: 10640222

Clinical prediction guides

Martin K, Dar P, MacPherson C, Egbert M, Demko Z, Parmar S, Hashimoto K, Haeri S, Malone F, Wapner RJ, Roman AS, Khalil A, Faro R, Madankumar R, Strong N, Silver RM, Vohra N, Hyett J, Rabinowitz M, Kao C, Hakonarson H, Jacobsson B, Norton ME
Genet Med 2023 Aug;25(8):100879. Epub 2023 May 5 doi: 10.1016/j.gim.2023.100879. PMID: 37154148
Mardy AH, Norton ME
Prenat Diagn 2021 Sep;41(10):1249-1254. Epub 2021 Aug 25 doi: 10.1002/pd.6021. PMID: 34386984
Asnafi AA, Deris Zayeri Z, Shahrabi S, Zibara K, Vosughi T
J Cell Physiol 2019 May;234(5):5798-5806. Epub 2018 Nov 14 doi: 10.1002/jcp.27505. PMID: 30430567
Bondy CA, Hougen HY, Zhou J, Cheng CM
Pediatr Endocrinol Rev 2012 May;9 Suppl 2:728-32. PMID: 22946286
Witters I, Fryns JR
Genet Couns 2007;18(1):1-7. PMID: 17515296

Recent systematic reviews

Becking EC, Schuit E, van Baar de Knegt SME, Sistermans EA, Henneman L, Bekker MN, Scheffer PG
Prenat Diagn 2023 Jun;43(7):838-853. Epub 2023 May 17 doi: 10.1002/pd.6366. PMID: 37143173
Bussolaro S, Raymond YC, Acreman ML, Guido M, Da Silva Costa F, Rolnik DL, Fantasia I
Am J Obstet Gynecol MFM 2023 Mar;5(3):100844. Epub 2022 Dec 24 doi: 10.1016/j.ajogmf.2022.100844. PMID: 36572107
Morris LA, Tishelman AC, Kremen J, Ross RA
Arch Sex Behav 2020 Feb;49(2):769-786. Epub 2019 Oct 9 doi: 10.1007/s10508-019-01549-1. PMID: 31598804Free PMC Article
Pezeshki A, Podder S, Kamel R, Corey SJ
Pediatr Blood Cancer 2017 Dec;64(12) Epub 2017 Jul 14 doi: 10.1002/pbc.26714. PMID: 28708320Free PMC Article
Kagan KO, Hoopmann M, Singer S, Schaeferhoff K, Dufke A, Mau-Holzmann UA
Arch Gynecol Obstet 2016 Aug;294(2):219-24. Epub 2016 Mar 29 doi: 10.1007/s00404-016-4077-y. PMID: 27022934

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...