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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

Mikwar M, MacFarlane AJ, Marchetti F
Mutat Res Rev Mutat Res 2020 Jul-Sep;785:108320. Epub 2020 Jul 4 doi: 10.1016/j.mrrev.2020.108320. PMID: 32800274
Álvarez-Nava F, Lanes R
Clin Epigenetics 2018;10:45. Epub 2018 Apr 6 doi: 10.1186/s13148-018-0477-0. PMID: 29636833Free PMC Article
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

Diagnosis

Noordman ID, van der Velden JA, Timmers HJ, Pienkowski C, Köhler B, Kempers M, Reisch N, Richter-Unruh A, Arlt W, Nordenström A, Webb EA, Roeleveld N, Claahsen-van der Grinten HL
Pediatr Endocrinol Rev 2019 Apr;16(4):431-440. doi: 10.17458/per.vol16.2019.nvt.karyotypeturnersyndrome. PMID: 31245938
Omansky GL, Abdulhayoglu E, Zhurbilo B
Neonatal Netw 2017 Mar 1;36(2):98-100. doi: 10.1891/0730-0832.36.2.98. PMID: 28320496
Rocha CF, Vasques RB, Santos SR, Paiva CL
Genet Mol Res 2016 Feb 22;15(1) doi: 10.4238/gmr.15017942. PMID: 26910004
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

Therapy

Frank Y
Pediatr Neurol 2021 Sep;122:59-64. Epub 2021 Jun 16 doi: 10.1016/j.pediatrneurol.2021.06.002. PMID: 34325981
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
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
Chatterjee T, Choudhry VP
Indian J Pediatr 2013 Sep;80(9):764-71. Epub 2013 Aug 3 doi: 10.1007/s12098-013-1130-8. PMID: 23912822
Bondy CA, Hougen HY, Zhou J, Cheng CM
Pediatr Endocrinol Rev 2012 May;9 Suppl 2:728-32. PMID: 22946286
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article
Griffin DK
Int Rev Cytol 1996;167:263-96. doi: 10.1016/s0074-7696(08)61349-2. PMID: 8768496

Clinical prediction guides

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
Santorum M, Wright D, Syngelaki A, Karagioti N, Nicolaides KH
Ultrasound Obstet Gynecol 2017 Jun;49(6):714-720. Epub 2017 Apr 26 doi: 10.1002/uog.17283. PMID: 27549925
Bondy CA, Cheng C
Chromosome Res 2009;17(5):649-58. doi: 10.1007/s10577-009-9052-z. PMID: 19802705
Gajecka M, Mackay KL, Shaffer LG
Am J Med Genet C Semin Med Genet 2007 Nov 15;145C(4):346-56. doi: 10.1002/ajmg.c.30154. PMID: 17918734

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
Bunnell ME, Wilkins-Haug L, Reiss R
Prenat Diagn 2017 Dec;37(13):1273-1280. doi: 10.1002/pd.5185. PMID: 29164644
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

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