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Mosaic Turner syndrome

MedGen UID:
873772
•Concept ID:
C4040907
•
Disease or Syndrome
Synonyms: Mosaic monosomy type X; mosaic monosomy X; Mosaic monosomy X; XX/XO
SNOMED CT: Mosaic Turner syndrome (710010005)
 
Monarch Initiative: MONDO:0020467
Orphanet: ORPHA99228

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMosaic Turner syndrome

Professional guidelines

PubMed

Outcomes of Fertility Preservation Consults for Women at Risk for Primary Ovarian Insufficiency Due to History of Cancer Treatment or Mosaic Turner Syndrome.
Ulrich ND, Raja N, Ellman E, Moravek MB
J Adolesc Young Adult Oncol 2022 Aug;11(4):427-432. Epub 2021 Sep 22 doi: 10.1089/jayao.2021.0115. PMID: 34550775
Reproductive outcomes after preimplantation genetic testing in mosaic Turner syndrome: a retrospective cohort study of 100 cycles.
Liao J, Luo K, Cheng D, Xie P, Tan Y, Hu L, Lu G, Gong F, Lin G
J Assist Reprod Genet 2021 May;38(5):1247-1253. Epub 2021 Mar 6 doi: 10.1007/s10815-021-02127-y. PMID: 33677746Free PMC Article
The rate of sex chromosome aneuploidies in prenatal diagnosis and subsequent decisions in Western Turkey.
Ataman E, Cogulu O, Durmaz A, Karaca E, Durmaz B, Akin H, Ozkinay F
Genet Test Mol Biomarkers 2012 Feb;16(2):150-3. Epub 2011 Oct 6 doi: 10.1089/gtmb.2011.0130. PMID: 21977968

Recent clinical studies

Etiology

Oocyte cryopreservation with in vitro maturation for fertility preservation in girls at risk for ovarian insufficiency.
Gayete-Lafuente S, Turan V, Oktay KH
J Assist Reprod Genet 2023 Dec;40(12):2777-2785. Epub 2023 Sep 16 doi: 10.1007/s10815-023-02932-7. PMID: 37715873Free PMC Article
Turner Syndrome and Neurofibromatosis 1: Rare Co-Existence with Important Clinical Implications.
Mondal S, Agrawal N, Chowdhury S
J ASEAN Fed Endocr Soc 2023;38(1):114-119. Epub 2023 Feb 17 doi: 10.15605/jafes.038.01.20. PMID: 37252421Free PMC Article
In vitro fertilization and preimplantation genetic diagnosis outcomes in mosaic Turner's syndrome: A retrospective cohort study from a single referral center experience.
Acet F, Sahin G, Ucar AAO, Emirdar V, Karaca E, Durmaz B, Goker ENT, Tavmergen E
J Gynecol Obstet Hum Reprod 2022 Sep;51(7):102405. Epub 2022 May 13 doi: 10.1016/j.jogoh.2022.102405. PMID: 35569796
Reproductive outcomes after preimplantation genetic testing in mosaic Turner syndrome: a retrospective cohort study of 100 cycles.
Liao J, Luo K, Cheng D, Xie P, Tan Y, Hu L, Lu G, Gong F, Lin G
J Assist Reprod Genet 2021 May;38(5):1247-1253. Epub 2021 Mar 6 doi: 10.1007/s10815-021-02127-y. PMID: 33677746Free PMC Article
Aortic root dilation in a child with Marfan syndrome and mosaic Turner syndrome.
Groner A, Qadir A
Cardiol Young 2020 Dec;30(12):1976-1977. Epub 2020 Oct 7 doi: 10.1017/S1047951120003200. PMID: 33023689

Diagnosis

Rare Turner syndrome and lupus coexistence with insights from DNA methylation patterns.
Kavrul Kayaalp G, Casares-Marfil D, Şahin S, Kasapçopur Ö, Sözeri B, Aktay Ayaz N, Sawalha AH
Clin Immunol 2024 Sep;266:110310. Epub 2024 Jul 14 doi: 10.1016/j.clim.2024.110310. PMID: 39009202
Turner Syndrome and Neurofibromatosis 1: Rare Co-Existence with Important Clinical Implications.
Mondal S, Agrawal N, Chowdhury S
J ASEAN Fed Endocr Soc 2023;38(1):114-119. Epub 2023 Feb 17 doi: 10.15605/jafes.038.01.20. PMID: 37252421Free PMC Article
In vitro fertilization and preimplantation genetic diagnosis outcomes in mosaic Turner's syndrome: A retrospective cohort study from a single referral center experience.
Acet F, Sahin G, Ucar AAO, Emirdar V, Karaca E, Durmaz B, Goker ENT, Tavmergen E
J Gynecol Obstet Hum Reprod 2022 Sep;51(7):102405. Epub 2022 May 13 doi: 10.1016/j.jogoh.2022.102405. PMID: 35569796
Polycystic Ovary Syndrome and Incidental Diagnosis of Mosaic Turner Syndrome.
Ding A, Guerin A, Lujan ME, Velez MP
J Obstet Gynaecol Can 2021 Jun;43(6):756-759. Epub 2020 Sep 8 doi: 10.1016/j.jogc.2020.08.020. PMID: 33158769
Postnatal outcomes of prenatally diagnosed 45,X/46,XX.
Tokita MJ, Sybert VP
Am J Med Genet A 2016 May;170A(5):1196-201. Epub 2016 Jan 20 doi: 10.1002/ajmg.a.37551. PMID: 26789280

Therapy

Augmentation vaginoplasty with buccal mucosa for the surgical revision of postreconstructive vaginal stenosis: a case series.
Learner HI, Creighton SM, Wood D
J Pediatr Urol 2019 Aug;15(4):402.e1-402.e7. Epub 2019 May 25 doi: 10.1016/j.jpurol.2019.05.019. PMID: 31351946
Conservation of fertility and oocyte genetics in a young woman with mosaic Turner syndrome.
Balen AH, Harris SE, Chambers EL, Picton HM
BJOG 2010 Jan;117(2):238-42. doi: 10.1111/j.1471-0528.2009.02423.x. PMID: 20002399
Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemia.
Alkhayyat H, Christesen HB, Steer J, Stewart H, Brusgaard K, Hussain K
J Pediatr Endocrinol Metab 2006 Dec;19(12):1451-7. doi: 10.1515/jpem.2006.19.12.1451. PMID: 17252699
Patterns of dysmorphic features in schizophrenia.
Scutt LE, Chow EW, Weksberg R, Honer WG, Bassett AS
Am J Med Genet 2001 Dec 8;105(8):713-23. doi: 10.1002/ajmg.1612. PMID: 11803519Free PMC Article
Pregnancy and reproductive function in a patient with non-mosaic Turner syndrome.
Baudier MM, Chihal HJ, Dickey RP
Obstet Gynecol 1985 Mar;65(3 Suppl):60S-64S. PMID: 3156290

Prognosis

Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome.
Hoyek S, Wang M, Berrocal AM, Wong A, Place EM, Mason-Suares H, Lin AE, Mukai S, Patel NA
Ophthalmic Genet 2023 Apr;44(2):198-203. Epub 2022 Jul 14 doi: 10.1080/13816810.2022.2098987. PMID: 35834361
Ovarian tissue cryopreservation for a 3-year-old girl with Mosaic Turner syndrome in China: First case report and literature review.
Cheng J, Ruan X, Du J, Jin F, Gu M, Wu Y, Mueck AO
Front Endocrinol (Lausanne) 2022;13:959912. Epub 2022 Nov 21 doi: 10.3389/fendo.2022.959912. PMID: 36479213Free PMC Article
The use of oocyte cryopreservation for fertility preservation in patients with sex chromosome disorders: a case series describing outcomes.
Martel RA, Blakemore JK, Fino ME
J Assist Reprod Genet 2022 May;39(5):1143-1153. Epub 2022 Mar 23 doi: 10.1007/s10815-022-02469-1. PMID: 35320443Free PMC Article
Preimplantation genetic testing for aneuploidy in patients with partial X monosomy using their own oocytes: is this a suitable indication?
Giles J, Meseguer M, Mercader A, Rubio C, Alegre L, Vidal C, Trabalon M, Bosch E
Fertil Steril 2020 Aug;114(2):346-353. Epub 2020 Jul 15 doi: 10.1016/j.fertnstert.2020.04.003. PMID: 32680612
Prenatally diagnosed Turner syndrome and cystic hygroma: incidence and reasons for referrals.
Alpman A, Cogulu O, Akgul M, Arikan EA, Durmaz B, Karaca E, Sağol S, Ozkinay C, Ozkinay F
Fetal Diagn Ther 2009;25(1):58-61. Epub 2008 Mar 12 doi: 10.1159/000199869. PMID: 19202339

Clinical prediction guides

Ovarian tissue cryopreservation for a 3-year-old girl with Mosaic Turner syndrome in China: First case report and literature review.
Cheng J, Ruan X, Du J, Jin F, Gu M, Wu Y, Mueck AO
Front Endocrinol (Lausanne) 2022;13:959912. Epub 2022 Nov 21 doi: 10.3389/fendo.2022.959912. PMID: 36479213Free PMC Article
Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case.
Lamanna B, Vinciguerra M, Dellino M, Cascella G, Cazzato G, Macorano E, Malvasi A, Scacco S, Cicinelli E, Loizzi V, Vimercati A, Cormio G, Paduano F, Cascardi E, Tatullo M
Int J Mol Sci 2022 Nov 19;23(22) doi: 10.3390/ijms232214408. PMID: 36430887Free PMC Article
The use of oocyte cryopreservation for fertility preservation in patients with sex chromosome disorders: a case series describing outcomes.
Martel RA, Blakemore JK, Fino ME
J Assist Reprod Genet 2022 May;39(5):1143-1153. Epub 2022 Mar 23 doi: 10.1007/s10815-022-02469-1. PMID: 35320443Free PMC Article
Preimplantation genetic testing for aneuploidy in patients with partial X monosomy using their own oocytes: is this a suitable indication?
Giles J, Meseguer M, Mercader A, Rubio C, Alegre L, Vidal C, Trabalon M, Bosch E
Fertil Steril 2020 Aug;114(2):346-353. Epub 2020 Jul 15 doi: 10.1016/j.fertnstert.2020.04.003. PMID: 32680612
Evaluation of sexual function and micro- testicular sperm extraction in men with mosaic Turner syndrome.
Salvarci A, Zamani A
Natl Med J India 2018 Sep-Oct;31(5):274-278. doi: 10.4103/0970-258X.261196. PMID: 31267991

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