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Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic reviewLEGGETT, VICTORIA ; JACOBS, PATRICIA ; NATION, KATE ; SCERIF, GAIA ; BISHOP, DOROTHY V MDevelopmental medicine and child neurology, 2010-02, Vol.52 (2), p.119-129 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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False‐negative trisomy 18 non‐invasive prenatal test result due to 48,XXX,+18 placental mosaicismGao, Y. ; Stejskal, D. ; Jiang, F. ; Wang, W.Ultrasound in obstetrics & gynecology, 2014-04, Vol.43 (4), p.477-478 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre studyGruchy, Nicolas ; Blondeel, Eleonore ; Le Meur, Nathalie ; Joly-Hélas, Géraldine ; Chambon, Pascal ; Till, Marianne ; Herbaux, Martine ; Vigouroux-Castera, Adeline ; Coussement, Aurélie ; Lespinasse, James ; Amblard, Florence ; Jimenez Pocquet, Mélanie ; Lebel-Roy, Camille ; Carré-Pigeon, Frédérique ; Flori, Elisabeth ; Mugneret, Francine ; Jaillard, Sylvie ; Yardin, Catherine ; Harbuz, Radu ; Collonge-Rame, Marie-Agnès ; Vago, Philippe ; Valduga, Mylène ; Leporrier, Nathalie ; Vialard, FrançoisPrenatal diagnosis, 2016-06, Vol.36 (6), p.523-529 [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
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Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature reviewLim, Han Hyuk ; Kil, Hong Ryang ; Koo, Sun HoeAmerican journal of medical genetics. Part A, 2017-07, Vol.173 (7), p.1961-1964 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21Li, Jin ; Xie, Mingshui ; Wang, Fang ; Ma, Jianhong ; Li, Jiafu ; Chen, Chen ; Li, Zhimin ; Wang, Juan ; Zhang, Yuanzhen ; Li, YirongMolecular genetics & genomic medicine, 2020-08, Vol.8 (8), p.e1279-n/a [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |
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Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XXCremonini, Giorgio ; Poggi, Alice ; Capucci, Roberta ; Vesce, Fortunato ; Patella, Alfredo ; Marci, RobertoThe journal of obstetrics and gynaecology research, 2014-01, Vol.40 (1), p.259-262 [Periódico revisado por pares]AustraliaTexto completo disponível |
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Duodenal atresia in an infant with triple‐X syndrome: A new associated malformation in 47,XXXRolle, Udo ; Linse, Barbara ; Glasow, Simone ; Sandig, Klaus Rainer ; Richter, Thomas ; Till, HolgerBirth defects research. A Clinical and molecular teratology, 2007-08, Vol.79 (8), p.612-613 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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A review of neurocognitive functioning of children with sex chromosome trisomies: Identifying targets for early interventionUrbanus, Evelien ; Rijn, Sophie ; Swaab, HannaClinical genetics, 2020-01, Vol.97 (1), p.156-167 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Incidence of sex chromosome aneuploidy in a prenatal population: 27‐year longitudinal study in Northern ItalySamango‐Sprouse, C. A. ; Grati, F. R. ; Brooks, M. ; Hamzik, M. P. ; Khaksari, K. ; Gropman, A. ; Taylor, A. ; Malvestiti, F. ; Grimi, B. ; Liuti, R. ; Milani, S. ; Chinetti, S. ; Trotta, A. ; Agrati, C. ; Repetti, E. ; Martin, K. A.Ultrasound in obstetrics & gynecology, 2023-08, Vol.62 (2), p.266-272 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Double trisomy 48,XXX,+18 in association with increased nuchal translucency; two casesvan Huizen, M. E. ; Knegt, A. C. ; Bijlsma, E. K. ; Bilardo, C. M.Prenatal diagnosis, 2004-12, Vol.24 (12), p.1020-1021 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |