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Tulay P, Ergoren MC, Alkaya A, Yayci E, Sag SO, Temel SG. Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case. Glob Med Genet. 2020 Dec;7(4):128–132.TulayPErgorenMCAlkayaAYayciESagSOTemelSGInconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome CaseGlob Med Genet2020Dec74128132Search in Google Scholar
Dabrowski E, Johnson EK, Patel V, Hsu Y, Davis S, Goetsch AL, Habiby R, Brickman WJ, Finlayson C. Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy. J Pediatr Adolesc Gynecol. 2020 Feb;33(1):10–14.DabrowskiEJohnsonEKPatelVHsuYDavisSGoetschALHabibyRBrickmanWJFinlaysonCTurner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of MalignancyJ Pediatr Adolesc Gynecol2020Feb3311014Search in Google Scholar
Zhang H, Zhang X, Yang M. Clinical case report: A case of Turner syndrome with Graves’ disease. Medicine (Baltimore). 2020 Mar;99(11):e19518.ZhangHZhangXYangMClinical case report: A case of Turner syndrome with Graves’ diseaseMedicine (Baltimore)2020Mar9911e19518Search in Google Scholar
Libotte F, Carpineto SL, Dello Russo C, Viola A, Margiotti K, Restaldi F, Novelli A, Mesoraca A, Giorlandino C. Cytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound Examinations. J Med Life. 2020 Oct–Dec;13(4):624–628.LibotteFCarpinetoSLDello RussoCViolaAMargiottiKRestaldiFNovelliAMesoracaAGiorlandinoCCytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound ExaminationsJ Med Life2020Oct–Dec134624628Search in Google Scholar
Canto P, Galicia N, Söderlund D, Escudero I, Méndez JP. Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism. Eur J Obstet Gynecol Reprod Biol. 2004 Jul 15;115(1):55–8.CantoPGaliciaNSöderlundDEscuderoIMéndezJPScreening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicismEur J Obstet Gynecol Reprod Biol2004Jul151151558Search in Google Scholar
Rojek A, Obara-Moszynska M, Kolesinska Z, Rabska-Pietrzak B, Niedziela M. Molecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome. Sex Dev. 2017;11(5–6):254–261.RojekAObara-MoszynskaMKolesinskaZRabska-PietrzakBNiedzielaMMolecular Detection and Incidence of Y Chromosomal Material in Patients with Turner SyndromeSex Dev.2017115–6254261Search in Google Scholar
Jeppesen LD, Hatt L, Singh R, Schelde P, Andreasen L, Markholt S, Lildballe DL, Vogel I. Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome-Applications and Advantages of Cell-Based NIPT. Front Genet. 2021 Sep 14;12:741752.JeppesenLDHattLSinghRScheldePAndreasenLMarkholtSLildballeDLVogelIScreening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome-Applications and Advantages of Cell-Based NIPTFront Genet2021Sep1412741752Search in Google Scholar
Silva-Grecco RL, Trovó-Marqui AB, Sousa TA, Croce LD, Balarin MA. Identification of Y-Chromosome Sequences in Turner Syndrome. Indian J Pediatr. 2016 May;83(5):405–9.Silva-GreccoRLTrovó-MarquiABSousaTACroceLDBalarinMAIdentification of Y-Chromosome Sequences in Turner SyndromeIndian J Pediatr2016May8354059Search in Google Scholar
Raymond FL, Whittaker J, Jenkins L, Lench N, Chitty LS. Molecular prenatal diagnosis: the impact of modern technologies. Prenat Diagn. 2010 Jul;30(7):674–81.RaymondFLWhittakerJJenkinsLLenchNChittyLSMolecular prenatal diagnosis: the impact of modern technologiesPrenat Diagn2010Jul30767481Search in Google Scholar
Brady P, Brison N, Van Den Bogaert K, de Ravel T, Peeters H, Van Esch H, Devriendt K, Legius E, Vermeesch JR. Clinical implementation of NIPT - technical and biological challenges. Clin Genet. 2016 May;89(5):523–30.BradyPBrisonNVan Den BogaertKde RavelTPeetersHVan EschHDevriendtKLegiusEVermeeschJRClinical implementation of NIPT - technical and biological challengesClin Genet2016May89552330Search in Google Scholar
Bedei I, Wolter A, Weber A, Signore F, Axt-Fliedner R. Chances and Challenges of New Genetic Screening Technologies (NIPT) in Prenatal Medicine from a Clinical Perspective: A Narrative Review. Genes (Basel). 2021 Mar 29;12(4):501.BedeiIWolterAWeberASignoreFAxt-FliednerRChances and Challenges of New Genetic Screening Technologies (NIPT) in Prenatal Medicine from a Clinical Perspective: A Narrative ReviewGenes (Basel)2021Mar29124501Search in Google Scholar
Pham J, Shaw C, Pursley A, Hixson P, Sampath S, Roney E, Gambin T, Kang SH, Bi W, Lalani S, Bacino C, Lupski JR, Stankiewicz P, Patel A, Cheung SW. Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur J Hum Genet. 2014 Aug;22(8):969–78.PhamJShawCPursleyAHixsonPSampathSRoneyEGambinTKangSHBiWLalaniSBacinoCLupskiJRStankiewiczPPatelACheungSWSomatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive casesEur J Hum Genet2014Aug22896978Search in Google Scholar
Van Opstal D, Srebniak MI, Polak J, de Vries F, Govaerts LC, Joosten M, Go AT, Knapen MF, van den Berg C, Diderich KE, Galjaard RJ. False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review. PLoS One. 2016 Jan 15;11(1):e0146794.Van OpstalDSrebniakMIPolakJde VriesFGovaertsLCJoostenMGoATKnapenMFvan den BergCDiderichKEGaljaardRJFalse Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature ReviewPLoS One2016Jan15111e0146794Search in Google Scholar
Weidler EM, Pearson M, van Leeuwen K, Garvey E. Clinical management in mixed gonadal dysgenesis with chromosomal mosaicism: Considerations in newborns and adolescents. Semin Pediatr Surg. 2019 Oct;28(5):150841.WeidlerEMPearsonMvan LeeuwenKGarveyEClinical management in mixed gonadal dysgenesis with chromosomal mosaicism: Considerations in newborns and adolescentsSemin Pediatr Surg2019Oct285150841Search in Google Scholar
Lindhardt Johansen M, Hagen CP, Rajpert-De Meyts E, Kjærgaard S, Petersen BL, Skakkebæk NE, Main KM, Juul A. 45,X/46,XY mosaicism: phenotypic characteristics, growth, and reproductive function--a retrospective longitudinal study. J Clin Endocrinol Metab. 2012 Aug;97(8):E1540–9.Lindhardt JohansenMHagenCPRajpert-De MeytsEKjærgaardSPetersenBLSkakkebækNEMainKMJuulA45,X/46,XY mosaicism: phenotypic characteristics, growth, and reproductive function--a retrospective longitudinal studyJ Clin Endocrinol Metab2012Aug978E15409Search in Google Scholar
Reddy KS, Sulcova V. Pathogenetics of 45,X/46,XY gonadal mosaicism. Cytogenet Cell Genet. 1998;82(1–2):52–7.ReddyKSSulcovaVPathogenetics of 45,X/46,XY gonadal mosaicismCytogenet Cell Genet.1998821–2527Search in Google Scholar
Bakoto N, Corman V, Legros JJ. Ascending aortic aneurysm in a patient with mixed gonadal dysgenesis. Ann Endocrinol (Paris). 2011 Feb;72(1):45–7.BakotoNCormanVLegrosJJAscending aortic aneurysm in a patient with mixed gonadal dysgenesisAnn Endocrinol (Paris)2011Feb721457Search in Google Scholar
Gøtzsche CO, Krag-Olsen B, Nielsen J, Sørensen KE, Kristensen BO. Prevalence of cardiovascular malformations and association with karyotypes in Turner’s syndrome. Arch Dis Child. 1994 Nov;71(5):433–6.GøtzscheCOKrag-OlsenBNielsenJSørensenKEKristensenBOPrevalence of cardiovascular malformations and association with karyotypes in Turner’s syndromeArch Dis Child1994Nov7154336Search in Google Scholar
Hatano M, Fukuzawa R, Hasegawa Y. The Mosaicism Ratio of 45,X May Explain the Phenotype in a Case of Mixed Gonadal Dysgenesis. Sex Dev. 2018;12(4):175–179.HatanoMFukuzawaRHasegawaYThe Mosaicism Ratio of 45,X May Explain the Phenotype in a Case of Mixed Gonadal DysgenesisSex Dev.2018124175179Search in Google Scholar
Rosa RF, D’Ecclesiis WF, Dibbi RP, Rosa RC, Trevisan P, Graziadio C, Paskulin GA, Zen PR. 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study. Sao Paulo Med J. 2014 Dec;132(6):332–8.RosaRFD’EcclesiisWFDibbiRPRosaRCTrevisanPGraziadioCPaskulinGAZenPR45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective studySao Paulo Med J2014Dec13263328Search in Google Scholar
Rasouli M, McDaniel K, Awadalla M, Chung K. Mosaic Turner Syndrome Presenting with a 46,XY Karyotype. Case Rep Obstet Gynecol. 2019 Apr 11;2019:3719178.RasouliMMcDanielKAwadallaMChungKMosaic Turner Syndrome Presenting with a 46,XY KaryotypeCase Rep Obstet Gynecol2019Apr1120193719178Search in Google Scholar
Lebo R V, Novak R W, Wolfe K, Michelson M, Robinson H, Mancuso M S. Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative , placental mosaic , and fetal mosaic cfDNA genotypes. Journal of Translational Medicine. 2015 Aug; 260(13):1–16.LeboR VNovakR WWolfeKMichelsonMRobinsonHMancusoM SDiscordant circulating fetal DNA and subsequent cytogenetics reveal false negative , placental mosaic , and fetal mosaic cfDNA genotypesJournal of Translational Medicine2015Aug26013116Search in Google Scholar
Hayata K, Hiramatsu Y, Masuyama H, Eto E, Mitsui T, Tamada S. Discrepancy between Non-invasive Prenatal Genetic Testing (NIPT) and Amniotic Chromosomal Test due to Placental Mosaicism: A Case Report and Literature Review. Acta Med Okayama. 2017 Apr;71(2):181–185.HayataKHiramatsuYMasuyamaHEtoEMitsuiTTamadaSDiscrepancy between Non-invasive Prenatal Genetic Testing (NIPT) and Amniotic Chromosomal Test due to Placental Mosaicism: A Case Report and Literature ReviewActa Med Okayama2017Apr712181185Search in Google Scholar
Wolstenholme J, Evans J, English C. A 45,X fetus with false-negative 46,XX findings in CVS. Prenat Diagn. 2008 Mar;28(3):266–7.WolstenholmeJEvansJEnglishCA 45,X fetus with false-negative 46,XX findings in CVSPrenat Diagn2008Mar2832667Search in Google Scholar
Bisat T, May K, Litwer S, Broecker B. Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia. Clin Genet. 1993 Sep;44(3):142–5.BisatTMayKLitwerSBroeckerBY chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitaliaClin Genet1993Sep4431425Search in Google Scholar
Serapinas D, Bartkeviciene D, Valantinaviciene E, Machtejeviene E. Normal newborn with prenatal suspicion of X chromosome monosomy due to confined placental mosaicism. Arch Argent Pediatr. 2016 Oct 1;114(5):e362–5. English, Spanish.SerapinasDBartkevicieneDValantinavicieneEMachtejevieneENormal newborn with prenatal suspicion of X chromosome monosomy due to confined placental mosaicismArch Argent Pediatr2016Oct11145e3625English, Spanish.Search in Google Scholar