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Monosomy X(MX)

MedGen UID:
116607
Concept ID:
C0242526
Disease or Syndrome
Synonyms: 45, X Syndrome; Chromosome X Monosomy X; Gonadal Dysgenesis (45,X); MX
SNOMED CT: 45XO - Turner's syndrome (710008008); 45, X syndrome (710008008); XO syndrome (710008008); Monosomy X (710008008); Karyotype 45, X (710008008); XO - Turner's syndrome (710008008)
 
Monarch Initiative: MONDO:0020466
Orphanet: ORPHA99226

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
Xu Y, Chen L, Liu Y, Hao Y, Xu Z, Deng L, Xie J
Expert Rev Mol Diagn 2019 Jun;19(6):537-542. Epub 2019 May 13 doi: 10.1080/14737159.2019.1613154. PMID: 31081704

Curated

American College of Medical Genetics and Genomics Noninvasive Prenatal Screening via Cell-Free DNA ACT Sheet, 45,X: Positive Cell Free DNA Screen, 2021

Recent clinical studies

Etiology

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
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
Qin Y, Jiao X, Simpson JL, Chen ZJ
Hum Reprod Update 2015 Nov-Dec;21(6):787-808. Epub 2015 Aug 4 doi: 10.1093/humupd/dmv036. PMID: 26243799Free 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

Diagnosis

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
Rudd MK, Schleede JB, Williams SR, Lee K, Laffin J, Pasion R, Papenhausen PR
Prenat Diagn 2018 Nov;38(12):920-923. Epub 2018 Sep 24 doi: 10.1002/pd.5349. PMID: 30156302
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
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

Therapy

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
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
Bernardini L, Giuffrida MG, Francalanci P, Capalbo A, Novelli A, Callea F, Dallapiccola B
Am J Med Genet A 2010 Aug;152A(8):1967-72. doi: 10.1002/ajmg.a.33538. PMID: 20635409
Bondy CA
Congenit Heart Dis 2008 Jan-Feb;3(1):2-15. doi: 10.1111/j.1747-0803.2007.00163.x. PMID: 18373744
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

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
Rudd MK, Schleede JB, Williams SR, Lee K, Laffin J, Pasion R, Papenhausen PR
Prenat Diagn 2018 Nov;38(12):920-923. Epub 2018 Sep 24 doi: 10.1002/pd.5349. PMID: 30156302
Qin Y, Jiao X, Simpson JL, Chen ZJ
Hum Reprod Update 2015 Nov-Dec;21(6):787-808. Epub 2015 Aug 4 doi: 10.1093/humupd/dmv036. PMID: 26243799Free PMC Article
Witters I, Fryns JR
Genet Couns 2007;18(1):1-7. PMID: 17515296

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
Rudd MK, Schleede JB, Williams SR, Lee K, Laffin J, Pasion R, Papenhausen PR
Prenat Diagn 2018 Nov;38(12):920-923. Epub 2018 Sep 24 doi: 10.1002/pd.5349. PMID: 30156302
Qin Y, Jiao X, Simpson JL, Chen ZJ
Hum Reprod Update 2015 Nov-Dec;21(6):787-808. Epub 2015 Aug 4 doi: 10.1093/humupd/dmv036. PMID: 26243799Free PMC Article
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
Levy AT, Berghella V, Al-Kouatly HB
Am J Med Genet A 2021 Jan;185(1):26-32. Epub 2020 Oct 7 doi: 10.1002/ajmg.a.61902. PMID: 33026168
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
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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    Clinical resources

    Practice guidelines

    • PubMed
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    • 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.

    Curated

    • ACMG ACT, 2021
      American College of Medical Genetics and Genomics Noninvasive Prenatal Screening via Cell-Free DNA ACT Sheet, 45,X: Positive Cell Free DNA Screen, 2021

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