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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

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
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

Chorionic Villous Testing Versus Amniocentesis After Abnormal Noninvasive Prenatal Testing.
Rogers R, Mardy A
Clin Obstet Gynecol 2023 Sep 1;66(3):595-606. Epub 2023 Jul 17 doi: 10.1097/GRF.0000000000000801. PMID: 37650670
Turning a Turner to a twin mother.
Rajsekher M, Narayanan P
BMJ Case Rep 2021 Jun 11;14(6) doi: 10.1136/bcr-2021-242470. PMID: 34116994Free 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

Chorionic Villous Testing Versus Amniocentesis After Abnormal Noninvasive Prenatal Testing.
Rogers R, Mardy A
Clin Obstet Gynecol 2023 Sep 1;66(3):595-606. Epub 2023 Jul 17 doi: 10.1097/GRF.0000000000000801. PMID: 37650670
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
Cytogenetic analysis of CpG-oligonucleotide DSP30 plus Interleukin-2-Stimulated canine B-Cell lymphoma cells reveals the loss of one X Chromosome as the sole abnormality.
Reimann-Berg N, Murua Escobar H, Kiefer Y, Mischke R, Willenbrock S, Eberle N, Nolte I, Bullerdiek J
Cytogenet Genome Res 2011;135(1):79-82. Epub 2011 Jul 28 doi: 10.1159/000330126. PMID: 21811057
Cytogenetic analysis of early nonviable pregnancies after assisted reproduction treatment.
Martínez MC, Méndez C, Ferro J, Nicolás M, Serra V, Landeras J
Fertil Steril 2010 Jan;93(1):289-92. Epub 2009 Sep 11 doi: 10.1016/j.fertnstert.2009.07.989. PMID: 19748088
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
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
Fetal nuchal translucency thickness.
Witters I, Fryns JR
Genet Couns 2007;18(1):1-7. PMID: 17515296
Incidence of congenital heart disease: II. Prenatal incidence.
Hoffman JI
Pediatr Cardiol 1995 Jul-Aug;16(4):155-65. doi: 10.1007/BF00794186. PMID: 7567659

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
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
Aneuploidies in embryos and spermatozoa from patients with Y chromosome microdeletions.
Mateu E, Rodrigo L, Martínez MC, Peinado V, Milán M, Gil-Salom M, Martínez-Jabaloyas JM, Remohí J, Pellicer A, Rubio C
Fertil Steril 2010 Dec;94(7):2874-7. Epub 2010 Jul 24 doi: 10.1016/j.fertnstert.2010.06.046. PMID: 20655521
Fetal nuchal translucency thickness.
Witters I, Fryns JR
Genet Couns 2007;18(1):1-7. PMID: 17515296
Primary biliary cirrhosis: does X mark the spot?
Selmi C, Invernizzi P, Miozzo M, Podda M, Gershwin ME
Autoimmun Rev 2004 Nov;3(7-8):493-9. doi: 10.1016/j.autrev.2004.05.003. PMID: 15546796

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
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

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    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

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    • GTR(Clinical)
      Clinical tests in GTR
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