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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

Term Hierarchy

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

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
Current Understanding of the Etiology, Symptomatology, and Treatment Options in Premature Ovarian Insufficiency (POI).
Ishizuka B
Front Endocrinol (Lausanne) 2021;12:626924. Epub 2021 Feb 25 doi: 10.3389/fendo.2021.626924. PMID: 33716979Free PMC Article
Turner Syndrome: Diagnostic and Management Considerations for Perinatal Clinicians.
Redel JM, Backeljauw PF
Clin Perinatol 2018 Mar;45(1):119-128. doi: 10.1016/j.clp.2017.11.003. PMID: 29406001

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

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
Mechanisms of oocyte aneuploidy associated with advanced maternal age.
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
Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13.
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
Genetics of primary ovarian insufficiency: new developments and opportunities.
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
Turner syndrome.
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

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
Current Understanding of the Etiology, Symptomatology, and Treatment Options in Premature Ovarian Insufficiency (POI).
Ishizuka B
Front Endocrinol (Lausanne) 2021;12:626924. Epub 2021 Feb 25 doi: 10.3389/fendo.2021.626924. PMID: 33716979Free PMC Article
Turner Syndrome: Diagnostic and Management Considerations for Perinatal Clinicians.
Redel JM, Backeljauw PF
Clin Perinatol 2018 Mar;45(1):119-128. doi: 10.1016/j.clp.2017.11.003. PMID: 29406001
Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis.
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
Turner syndrome.
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

Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis.
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
Growth hormone positive effects on craniofacial complex in Turner syndrome.
Juloski J, Dumančić J, Šćepan I, Lauc T, Milašin J, Kaić Z, Dumić M, Babić M
Arch Oral Biol 2016 Nov;71:10-15. Epub 2016 Jun 16 doi: 10.1016/j.archoralbio.2016.06.012. PMID: 27372203
X chromosome monosomy restricted to the left ventricle is not a major cause of isolated hypoplastic left heart.
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
Congenital cardiovascular disease in Turner syndrome.
Bondy CA
Congenit Heart Dis 2008 Jan-Feb;3(1):2-15. doi: 10.1111/j.1747-0803.2007.00163.x. PMID: 18373744
Turner syndrome.
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

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
Current Understanding of the Etiology, Symptomatology, and Treatment Options in Premature Ovarian Insufficiency (POI).
Ishizuka B
Front Endocrinol (Lausanne) 2021;12:626924. Epub 2021 Feb 25 doi: 10.3389/fendo.2021.626924. PMID: 33716979Free PMC Article
Monosomy X rescue explains discordant NIPT results and leads to uniparental isodisomy.
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
Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13.
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
Genetics of primary ovarian insufficiency: new developments and opportunities.
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

Clinical prediction guides

Cell-free DNA screening positive for monosomy X: clinical evaluation and management of suspected maternal or fetal Turner syndrome.
Dowlut-McElroy T, Davis S, Howell S, Gutmark-Little I, Bamba V, Prakash S, Patel S, Fadoju D, Vijayakanthi N, Haag M, Hennerich D, Dugoff L, Shankar RK
Am J Obstet Gynecol 2022 Dec;227(6):862-870. Epub 2022 Jul 13 doi: 10.1016/j.ajog.2022.07.004. PMID: 35841934Free PMC Article
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
Monosomy X rescue explains discordant NIPT results and leads to uniparental isodisomy.
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
Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13.
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
Genetics of primary ovarian insufficiency: new developments and opportunities.
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

Recent systematic reviews

Association between low fetal fraction in cell-free DNA screening and fetal chromosomal aberrations: A systematic review and meta-analysis.
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
The accuracy of prenatal cell-free DNA screening for sex chromosome abnormalities: A systematic review and meta-analysis.
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
Outcome of 45,X fetuses with cystic hygroma: A systematic review.
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
Depression in Turner Syndrome: A Systematic Review.
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
Discordance between ultrasound and cell free DNA screening for monosomy X.
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

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      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

    Consumer resources

    Reviews

    Related information

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    • GTR(Clinical)
      Clinical tests in GTR
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