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Monosomy X(MX)

MedGen UID:
116607
•Concept ID:
C0242526
•
Disease or Syndrome
Synonym: 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

Phenotypic variability and management of patients with mosaic monosomy X and Y chromosome material: a case series.
Fredj MB, Messaoud M, Youssef SB, Mani S, Laaribi S, Sakka R, Hmida HB, Ksiaa A, Mekki M, Belghith M, Sahnoun L
Ital J Pediatr 2024 May 7;50(1):93. doi: 10.1186/s13052-024-01618-9. PMID: 38715086Free PMC Article
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
Screening, prenatal diagnosis, and prenatal decision for sex chromosome aneuploidy.
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

Relationships among maternal monosomy X mosaicism, maternal trisomy, and discordant sex chromosome aneuploidies.
Tang X, Du Y, Chen M, Zhang Y, Wang Z, Zhang F, Tan J, Yin T, Wang L
Clin Chim Acta 2024 Feb 1;554:117770. Epub 2024 Jan 8 doi: 10.1016/j.cca.2024.117770. PMID: 38199578
Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017.
Elmerdahl Frederiksen L, Ølgaard SM, Roos L, Petersen OB, Rode L, Hartwig T, Ekelund CK; Danish Central Cytogenetics Registry Study Group, Vogel I
Acta Obstet Gynecol Scand 2024 Feb;103(2):351-359. Epub 2023 Nov 20 doi: 10.1111/aogs.14713. PMID: 37986093Free PMC Article
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
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

Turner Syndrome where are we?
Khan N, Farooqui A, Ishrat R
Orphanet J Rare Dis 2024 Aug 28;19(1):314. doi: 10.1186/s13023-024-03337-0. PMID: 39198906Free PMC Article
Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017.
Elmerdahl Frederiksen L, Ølgaard SM, Roos L, Petersen OB, Rode L, Hartwig T, Ekelund CK; Danish Central Cytogenetics Registry Study Group, Vogel I
Acta Obstet Gynecol Scand 2024 Feb;103(2):351-359. Epub 2023 Nov 20 doi: 10.1111/aogs.14713. PMID: 37986093Free PMC Article
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
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

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
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
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

Relationships among maternal monosomy X mosaicism, maternal trisomy, and discordant sex chromosome aneuploidies.
Tang X, Du Y, Chen M, Zhang Y, Wang Z, Zhang F, Tan J, Yin T, Wang L
Clin Chim Acta 2024 Feb 1;554:117770. Epub 2024 Jan 8 doi: 10.1016/j.cca.2024.117770. PMID: 38199578
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
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
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
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

Relationships among maternal monosomy X mosaicism, maternal trisomy, and discordant sex chromosome aneuploidies.
Tang X, Du Y, Chen M, Zhang Y, Wang Z, Zhang F, Tan J, Yin T, Wang L
Clin Chim Acta 2024 Feb 1;554:117770. Epub 2024 Jan 8 doi: 10.1016/j.cca.2024.117770. PMID: 38199578
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
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
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's syndrome in dermatology.
Lowenstein EJ, Kim KH, Glick SA
J Am Acad Dermatol 2004 May;50(5):767-76. doi: 10.1016/j.jaad.2003.07.031. PMID: 15097963

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
Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease.
Dirvanskyte P, Gurram B, Bolton C, Warner N, Jones KDJ, Griffin HR; Genomics England Research Consortium, Park JY, Keller KM, Gilmour KC, Hambleton S, Muise AM, Wysocki C, Uhlig HH
J Crohns Colitis 2023 Jan 27;17(1):49-60. doi: 10.1093/ecco-jcc/jjac103. PMID: 35907265Free PMC Article
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

    Practice guidelines

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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

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
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