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2. Monozygotic twins discordant for trisomy 21: Discussion of etiological events involved. Chang YL, Yi WP, Chao AS, Chen KJ, Cheng PJ, Wang TH, Chang SD. Taiwan J Obstet Gynecol; 2017 Oct; 56(5):681-685. PubMed ID: 29037558 [Abstract] [Full Text] [Related]
3. Trisomy 21-associated increases in chromosomal instability are unmasked by comparing isogenic trisomic/disomic leukocytes from people with mosaic Down syndrome. Rafferty K, Archer KJ, Turner K, Brown R, Jackson-Cook C. PLoS One; 2021 Oct; 16(7):e0254806. PubMed ID: 34283872 [Abstract] [Full Text] [Related]
5. Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines. Li M, Glass J, Du X, Dubbs H, Harr MH, Falk M, Smolarek T, Hopkin RJ, Zackai E, Sheppard SE. Am J Med Genet A; 2021 Aug; 185(8):2374-2383. PubMed ID: 33969943 [Abstract] [Full Text] [Related]
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9. Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome. Viuff MH, Stochholm K, Uldbjerg N, Nielsen BB, Danish Fetal Medicine Study Group, Gravholt CH. Hum Reprod; 2015 Oct; 30(10):2419-26. PubMed ID: 26251461 [Abstract] [Full Text] [Related]
10. Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue. Pan M, Li FT, Li Y, Jiang FM, Li DZ, Lau TK, Liao C. Prenat Diagn; 2013 Jun; 33(6):598-601. PubMed ID: 23533085 [Abstract] [Full Text] [Related]
11. Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells. Tsai MC, Cheng HY, Su MT, Chen M, Kuo PL. Taiwan J Obstet Gynecol; 2014 Dec; 53(4):598-601. PubMed ID: 25510708 [Abstract] [Full Text] [Related]
12. Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7. Font-Montgomery E, Stone KM, Weaver DD, Vance GH, Das S, Thurston VC. Birth Defects Res A Clin Mol Teratol; 2005 Aug; 73(8):577-82. PubMed ID: 16007591 [Abstract] [Full Text] [Related]
13. Lipid peroxidation in Down syndrome caused by regular trisomy 21, trisomy 21 by Robertsonian translocation and mosaic trisomy 21. Casado A, López-Fernández ME, Ruíz R. Clin Chem Lab Med; 2007 Aug; 45(1):59-62. PubMed ID: 17243916 [Abstract] [Full Text] [Related]
14. Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis. Donaghue C, Mann K, Docherty Z, Ogilvie CM. Prenat Diagn; 2005 Jan; 25(1):65-72. PubMed ID: 15662691 [Abstract] [Full Text] [Related]
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16. Trends in prenatal diagnosis of Down syndrome and other autosomal trisomies in Scotland 1990 to 1994, with associated cytogenetic and epidemiological findings. Carothers AD, Boyd E, Lowther G, Ellis PM, Couzin DA, Faed MJ, Robb A. Genet Epidemiol; 1999 May; 16(2):179-90. PubMed ID: 10030400 [Abstract] [Full Text] [Related]
17. [Cytogenetic study of Down syndrome cases in Nanning, China]. Zheng CG, Qin J, Du J, Chen K, Chen C, Tian XX, Xiang L, Sun L, Yang Z. Yi Chuan; 2009 Mar; 31(3):261-4. PubMed ID: 19273438 [Abstract] [Full Text] [Related]
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19. Cytogenetic analysis of 1572 cases of Down syndrome: a report of double aneuploidy and novel findings 47,XY, t(14;21)(q13;q22.3)mat,+21 and 45,XX,t(14;21) in an Indian population. Mandava S, Koppaka N, Bhatia V, Das BR. Genet Test Mol Biomarkers; 2010 Aug; 14(4):499-504. PubMed ID: 20642367 [Abstract] [Full Text] [Related]
20. [Detection of mosaic trisomy 9 missed by conventional cytogenetics using SNP-array and fluorescence in situ hybridization]. Luo Y, Chen S, Li H, Pan L, Shen M, Jin F, Xu C. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Aug; 31(4):469-71. PubMed ID: 25119912 [Abstract] [Full Text] [Related] Page: [Next] [New Search]