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1
False-negative trisomy 18 non-invasive prenatal test result due to 48,XXX,+18 placental mosaicism
False-negative trisomy 18 non-invasive prenatal test result due to 48,XXX,+18 placental mosaicism
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False-negative trisomy 18 non-invasive prenatal test result due to 48,XXX,+18 placental mosaicism

Ultrasound in obstetrics & gynecology, 2014-04, Vol.43 (4), p.477 [Peer Reviewed Journal]

EISSN: 1469-0705 ;DOI: 10.1002/uog.13240 ;PMID: 24186002

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2
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study
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Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study

Prenatal diagnosis, 2016-06, Vol.36 (6), p.523-529 [Peer Reviewed Journal]

2016 John Wiley & Sons, Ltd. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0197-3851 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.4817 ;PMID: 27018091

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3
Prenatal diagnosis of double trisomy 48, XXX, +18; case report
Prenatal diagnosis of double trisomy 48, XXX, +18; case report
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Prenatal diagnosis of double trisomy 48, XXX, +18; case report

Journal of obstetrics and gynaecology, 2018-10, Vol.38 (7), p.1015-1017 [Peer Reviewed Journal]

ISSN: 0144-3615 ;EISSN: 1364-6893 ;DOI: 10.1080/01443615.2017.1398220 ;PMID: 29433353

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4
45,XO/47,XXX/46,XX Male Sex Reversal Syndrome. A Case Report
45,XO/47,XXX/46,XX Male Sex Reversal Syndrome. A Case Report
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45,XO/47,XXX/46,XX Male Sex Reversal Syndrome. A Case Report

Journal of reproductive medicine, 2016-09, Vol.61 (9-10), p.510 [Peer Reviewed Journal]

ISSN: 0024-7758 ;EISSN: 1943-3565 ;PMID: 30383953

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5
Perinatal detection of disomy X cell line by fluorescence in situ hybridization in a pregnancy with 45,X/47,XXX at amniocentesis, cytogenetic discrepancy in various tissues and a favorable outcome
Perinatal detection of disomy X cell line by fluorescence in situ hybridization in a pregnancy with 45,X/47,XXX at amniocentesis, cytogenetic discrepancy in various tissues and a favorable outcome
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Perinatal detection of disomy X cell line by fluorescence in situ hybridization in a pregnancy with 45,X/47,XXX at amniocentesis, cytogenetic discrepancy in various tissues and a favorable outcome

Taiwanese journal of obstetrics & gynecology, 2023-11, Vol.62 (6), p.906-909 [Peer Reviewed Journal]

2023 ;ISSN: 1028-4559 ;DOI: 10.1016/j.tjog.2023.09.005

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6
A Spontaneous Pregnancy in a Patient with Turner Syndrome with 45,X/47,XXX Mosaicism: A Case Report and Review of the Literature
A Spontaneous Pregnancy in a Patient with Turner Syndrome with 45,X/47,XXX Mosaicism: A Case Report and Review of the Literature
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A Spontaneous Pregnancy in a Patient with Turner Syndrome with 45,X/47,XXX Mosaicism: A Case Report and Review of the Literature

Journal of pediatric & adolescent gynecology, 2018-12, Vol.31 (6), p.651 [Peer Reviewed Journal]

Copyright © 2018 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved. ;EISSN: 1873-4332 ;DOI: 10.1016/j.jpag.2018.07.005 ;PMID: 30012427

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7
Spontaneous Sexual Development and Heavy Menstrual Bleeding in 45,X Monosomy and 45,X/47,XXX Mosaic Turner Syndrome and a Review of the Literature
Spontaneous Sexual Development and Heavy Menstrual Bleeding in 45,X Monosomy and 45,X/47,XXX Mosaic Turner Syndrome and a Review of the Literature
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Spontaneous Sexual Development and Heavy Menstrual Bleeding in 45,X Monosomy and 45,X/47,XXX Mosaic Turner Syndrome and a Review of the Literature

Journal of pediatric & adolescent gynecology, 2020-10, Vol.33 (5), p.602 [Peer Reviewed Journal]

Copyright © 2020 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved. ;EISSN: 1873-4332 ;DOI: 10.1016/j.jpag.2020.04.002 ;PMID: 32315714

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8
45,X/46,XX at the first amniocentesis, and 45,X/47,XXX/46,XX at the repeat amniocentesis and at birth in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the 45,X cell line and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes
45,X/46,XX at the first amniocentesis, and 45,X/47,XXX/46,XX at the repeat amniocentesis and at birth in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the 45,X cell line and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes
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45,X/46,XX at the first amniocentesis, and 45,X/47,XXX/46,XX at the repeat amniocentesis and at birth in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the 45,X cell line and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes

Taiwanese journal of obstetrics & gynecology, 2023-11, Vol.62 (6), p.901-905 [Peer Reviewed Journal]

2023 ;ISSN: 1028-4559 ;DOI: 10.1016/j.tjog.2023.09.004

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9
Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX
Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX
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Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX

The journal of obstetrics and gynaecology research, 2014-01, Vol.40 (1), p.259-262 [Peer Reviewed Journal]

2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology ;2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology. ;ISSN: 1341-8076 ;EISSN: 1447-0756 ;DOI: 10.1111/jog.12131 ;PMID: 23937348

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10
Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review
Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review
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Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review

The journal of maternal-fetal & neonatal medicine, 2011-05, Vol.24 (4), p.668-672 [Peer Reviewed Journal]

2011 Informa UK, Ltd. 2011 ;ISSN: 1476-7058 ;EISSN: 1476-4954 ;DOI: 10.3109/14767058.2010.520769 ;PMID: 20923275

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11
Prenatal diagnosis of 47,XXX
Prenatal diagnosis of 47,XXX
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Prenatal diagnosis of 47,XXX

American journal of obstetrics and gynecology, 2005-05, Vol.192 (5), p.1469 [Peer Reviewed Journal]

ISSN: 0002-9378 ;EISSN: 1097-6868 ;DOI: 10.1016/j.ajog.2004.12.037 ;PMID: 15902140

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12
Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome
Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome
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Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome

Journal of medical genetics, 2002-03, Vol.39 (3), p.217-221 [Peer Reviewed Journal]

Copyright 2002 Journal of Medical Genetics ;2002 INIST-CNRS ;COPYRIGHT 2002 BMJ Publishing Group Ltd. ;Copyright: 2002 Copyright 2002 Journal of Medical Genetics ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.39.3.217 ;PMID: 11897829 ;CODEN: JMDGAE

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13
Sirenomelia: a review on embryogenic enviromental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetus
Sirenomelia: a review on embryogenic enviromental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetus
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Sirenomelia: a review on embryogenic enviromental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetus

Archives of gynecology and obstetrics, 2013-07, Vol.288 (1), p.3-11 [Peer Reviewed Journal]

Springer-Verlag Berlin Heidelberg 2013 ;Archives of Gynecology and Obstetrics is a copyright of Springer, (2013). All Rights Reserved. ;ISSN: 0932-0067 ;EISSN: 1432-0711 ;DOI: 10.1007/s00404-013-2847-3 ;PMID: 23625330

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14
Erratum to: Sirenomelia: a review on embryogenic environmental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetus
Erratum to: Sirenomelia: a review on embryogenic environmental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetus
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Erratum to: Sirenomelia: a review on embryogenic environmental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetus

Archives of gynecology and obstetrics, 2013-07, Vol.288 (1), p.13-13 [Peer Reviewed Journal]

Springer-Verlag Berlin Heidelberg 2013 ;Archives of Gynecology and Obstetrics is a copyright of Springer, (2013). All Rights Reserved. ;ISSN: 0932-0067 ;EISSN: 1432-0711 ;DOI: 10.1007/s00404-013-2899-4

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15
Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation
Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation
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Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation

Fertility and sterility, 2008-06, Vol.89 (6), p.1826.e5-1826.e7 [Peer Reviewed Journal]

American Society for Reproductive Medicine ;2008 American Society for Reproductive Medicine ;ISSN: 0015-0282 ;EISSN: 1556-5653 ;DOI: 10.1016/j.fertnstert.2007.06.065 ;PMID: 17953951

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16
47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development
47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development
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47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development

Fertility and sterility, 2009-11, Vol.92 (5), p.1747.e5-1747.e7 [Peer Reviewed Journal]

American Society for Reproductive Medicine ;2009 American Society for Reproductive Medicine ;ISSN: 0015-0282 ;EISSN: 1556-5653 ;DOI: 10.1016/j.fertnstert.2009.07.1008 ;PMID: 19732877

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17
Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory
Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory
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Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory

American journal of obstetrics and gynecology, 2017-12, Vol.217 (6), p.691.e1 [Peer Reviewed Journal]

Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved. ;EISSN: 1097-6868 ;DOI: 10.1016/j.ajog.2017.10.005 ;PMID: 29032050

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18
XXX Congreso Nacional de Obstetricia y Ginecología
XXX Congreso Nacional de Obstetricia y Ginecología
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XXX Congreso Nacional de Obstetricia y Ginecología

Revista obstetricia y ginecología de Venezuela, 2015-06, Vol.75 (2), p.138-143

ISSN: 0048-7732

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19
Diagnóstico prenatal de un feto con doble trisomía con cariotipo 48 XXX +18: reporte de un caso
Diagnóstico prenatal de un feto con doble trisomía con cariotipo 48 XXX +18: reporte de un caso
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Diagnóstico prenatal de un feto con doble trisomía con cariotipo 48 XXX +18: reporte de un caso

Ginecologia y obstetricia de Mexico, 2018-12, Vol.86 (12), p.810-814

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. ;ISSN: 0300-9041 ;DOI: 10.24245/gom.v86i12.1814

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20
Incidence of sex chromosome aneuploidy in a prenatal population: 27-year longitudinal study in Northern Italy
Incidence of sex chromosome aneuploidy in a prenatal population: 27-year longitudinal study in Northern Italy
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Incidence of sex chromosome aneuploidy in a prenatal population: 27-year longitudinal study in Northern Italy

Ultrasound in obstetrics & gynecology, 2023-08, Vol.62 (2), p.266 [Peer Reviewed Journal]

2023 International Society of Ultrasound in Obstetrics and Gynecology. ;EISSN: 1469-0705 ;DOI: 10.1002/uog.26201 ;PMID: 36929222

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