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Mosaicism 45, X; 46, XX

MedGen UID:
609532
Concept ID:
C0432465
Disease or Syndrome
SNOMED CT: Mosaicism 45, X; 46, XX (302960008)
 

Recent clinical studies

Etiology

Denes AM, Landin-Wilhelmsen K, Wettergren Y, Bryman I, Hanson C
Genet Test Mol Biomarkers 2015 Feb;19(2):82-7. Epub 2015 Jan 14 doi: 10.1089/gtmb.2014.0240. PMID: 25587646Free PMC Article
Klásková E, Tüdös Z, Sobek A, Zapletalová J, Dostál J, Zbořilová B, Sobek A Jr, Adamová K, Lattová V, Dostálová Z, Procházka M
Ultrasound Obstet Gynecol 2015 Jun;45(6):722-7. Epub 2015 May 11 doi: 10.1002/uog.14627. PMID: 25042300
Homer L, Morel F, Gallon F, Le Martelot MT, Amice V, Kerlan V, De Braekeleer M
Eur J Obstet Gynecol Reprod Biol 2012 Jul;163(1):47-51. Epub 2012 Apr 16 doi: 10.1016/j.ejogrb.2012.03.029. PMID: 22512827
Homer L, Le Martelot MT, Morel F, Amice V, Kerlan V, Collet M, De Braekeleer M
Eur J Endocrinol 2010 Mar;162(3):617-23. Epub 2009 Dec 8 doi: 10.1530/EJE-09-0750. PMID: 19996197
Fechner PY, Davenport ML, Qualy RL, Ross JL, Gunther DF, Eugster EA, Huseman C, Zagar AJ, Quigley CA; Toddler Turner Study Group.
J Clin Endocrinol Metab 2006 Dec;91(12):4896-902. Epub 2006 Sep 12 doi: 10.1210/jc.2006-1157. PMID: 16968797

Diagnosis

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
Homer L, Le Martelot MT, Morel F, Amice V, Kerlan V, Collet M, De Braekeleer M
Eur J Endocrinol 2010 Mar;162(3):617-23. Epub 2009 Dec 8 doi: 10.1530/EJE-09-0750. PMID: 19996197
Brambila-Tapia AJ, Rivera H, García-Castillo H, Domínguez-Quezada MG, Dávalos-Rodríguez IP
Fertil Steril 2009 Nov;92(5):1747.e5-7. Epub 2009 Sep 3 doi: 10.1016/j.fertnstert.2009.07.1008. PMID: 19732877
Yamazaki M, Sato A, Nishio S, Takeda T, Miyamoto T, Katai M, Hashizume K
Intern Med 2009;48(6):447-53. Epub 2009 Mar 16 PMID: 19293545
Moore AK, Lynch K, Arny MJ, Grow DR
Fertil Steril 2008 Nov;90(5):2012.e13-5. Epub 2008 Jun 12 doi: 10.1016/j.fertnstert.2008.03.063. PMID: 18554592

Therapy

Wang L, Meng Q, Tang X, Yin T, Zhang J, Yang S, Wang X, Wu H, Shi Q, Jenkins EC, Zhong N, Gu Y
Taiwan J Obstet Gynecol 2015 Oct;54(5):527-31. doi: 10.1016/j.tjog.2014.10.009. PMID: 26522104
Spennato P, La Porta A, Varone A, Ruggiero C, Buono S, Cinalli G
Clin Neurol Neurosurg 2013 Jun;115(6):820-2. Epub 2012 Aug 13 doi: 10.1016/j.clineuro.2012.07.030. PMID: 22898088
El-Mansoury M, Barrenäs ML, Bryman I, Hanson C, Larsson C, Wilhelmsen L, Landin-Wilhelmsen K
Clin Endocrinol (Oxf) 2007 May;66(5):744-51. Epub 2007 Mar 23 doi: 10.1111/j.1365-2265.2007.02807.x. PMID: 17381484
Fechner PY, Davenport ML, Qualy RL, Ross JL, Gunther DF, Eugster EA, Huseman C, Zagar AJ, Quigley CA; Toddler Turner Study Group.
J Clin Endocrinol Metab 2006 Dec;91(12):4896-902. Epub 2006 Sep 12 doi: 10.1210/jc.2006-1157. PMID: 16968797
Lebl J, Zahradníková M, Vlasak I, Neuhuber F
Horm Res 2001;55(2):102-5. doi: 49978. PMID: 11509867

Prognosis

Denes AM, Landin-Wilhelmsen K, Wettergren Y, Bryman I, Hanson C
Genet Test Mol Biomarkers 2015 Feb;19(2):82-7. Epub 2015 Jan 14 doi: 10.1089/gtmb.2014.0240. PMID: 25587646Free PMC Article
Castronovo C, Rossetti R, Rusconi D, Recalcati MP, Cacciatore C, Beccaria E, Calcaterra V, Invernizzi P, Larizza D, Finelli P, Persani L
Hum Reprod 2014 Feb;29(2):368-79. Epub 2013 Dec 8 doi: 10.1093/humrep/det436. PMID: 24324027Free PMC Article
Zhong Q, Layman LC
Fertil Steril 2012 Oct;98(4):775-9. doi: 10.1016/j.fertnstert.2012.08.021. PMID: 23020909Free PMC Article
Homer L, Le Martelot MT, Morel F, Amice V, Kerlan V, Collet M, De Braekeleer M
Eur J Endocrinol 2010 Mar;162(3):617-23. Epub 2009 Dec 8 doi: 10.1530/EJE-09-0750. PMID: 19996197
Koeberl DD, McGillivray B, Sybert VP
Am J Hum Genet 1995 Sep;57(3):661-6. PMID: 7668295Free PMC Article

Clinical prediction guides

Serra A, Denzer F, Hiort O, Barth TF, Henne-Bruns D, Barbi G, Rettenberger G, Wabitsch M, Just W, Leriche C
Sex Dev 2015;9(3):136-43. Epub 2015 Jun 3 doi: 10.1159/000430897. PMID: 26043854
Zhong Q, Layman LC
Fertil Steril 2012 Oct;98(4):775-9. doi: 10.1016/j.fertnstert.2012.08.021. PMID: 23020909Free PMC Article
Homer L, Le Martelot MT, Morel F, Amice V, Kerlan V, Collet M, De Braekeleer M
Eur J Endocrinol 2010 Mar;162(3):617-23. Epub 2009 Dec 8 doi: 10.1530/EJE-09-0750. PMID: 19996197
Fechner PY, Davenport ML, Qualy RL, Ross JL, Gunther DF, Eugster EA, Huseman C, Zagar AJ, Quigley CA; Toddler Turner Study Group.
J Clin Endocrinol Metab 2006 Dec;91(12):4896-902. Epub 2006 Sep 12 doi: 10.1210/jc.2006-1157. PMID: 16968797
Lorda-Sanchez I, Trujillo MJ, Gomez-Garre P, de Alba MR, Gonzalez-Gonzalez C, García-Hoyos M, Ayuso C, Ramos C
Am J Med Genet A 2003 Aug 15;121A(1):20-4. doi: 10.1002/ajmg.a.10197. PMID: 12900896

Recent systematic reviews

Barrenäs ML, Nylén O, Hanson C
Hear Res 1999 Dec;138(1-2):163-70. PMID: 10575123

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