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462 related items for PubMed ID: 23431743

  • 1. Partial trisomy 1q (1q42.13-->qter) and partial monosomy 6q (6q27-->qter) in a girl with single median maxillary central incisor, corpus callosum dysgenesis and developmental delay.
    Chen CP, Lin SP, Su YN, Chern SR, Su JW, Lee CC, Wang W.
    Genet Couns; 2012; 23(4):447-55. PubMed ID: 23431743
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  • 2. Trisomy 1q42-qter associated with monosomy 6q27-qter: a case report.
    Tartaglia E, Mastrantonio P, Costa D, Giugliano B, Porcellini A, Costagliola C.
    Eur J Ophthalmol; 2011; 21(3):315-9. PubMed ID: 20954143
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  • 3. Prenatal diagnosis of microdeletion 16p13.11 combination with partial monosomy of 2q37.1-qter and partial trisomy of 7p15.3-pter in a fetus with bilateral ventriculomegaly, agenesis of corpus callosum, and polydactyly.
    Sung PL, Chang CM, Chen CY, Wang PH, Chao KC, Wen KC, Cheng YY, Li YC, Lin CC.
    Taiwan J Obstet Gynecol; 2012 Jun; 51(2):260-5. PubMed ID: 22795105
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  • 4. Partial monosomy 8q and partial trisomy 9q due to the maternal translocation t(8;9(q24.3;q34.1): a case report.
    Tos T, Alp MY, Eker HK, Cebi AH, Ikbal M.
    Genet Couns; 2014 Jun; 25(1):35-9. PubMed ID: 24783653
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  • 5. Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay.
    Chen CP, Lin SP, Chen MR, Su YN, Chern SR, Liu YP, Su JW, Lee MS, Wang W.
    Genet Couns; 2012 Jun; 23(3):405-13. PubMed ID: 23072190
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  • 7. A severely mental and motor retarded boy with monosomy 9pter-->p22 trisomy 10q26-->qter due to paternal reciprocal translocation 46,XY,t(9;10)(p23;q26).
    Akbas E, Polat S, Karakas-Celik S, Altintas ZM, Yildirim M, Yilgor E.
    Genet Couns; 2011 Jun; 22(4):417-23. PubMed ID: 22303803
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  • 8. Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism.
    Chen CP, Lin SP, Chern SR, Wu PS, Chen SW, Wu FT, Town DD, Wang W.
    Taiwan J Obstet Gynecol; 2021 Jan; 60(1):169-172. PubMed ID: 33494996
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  • 9. A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.
    Paththinige CS, Sirisena ND, Kariyawasam UGIU, Ediriweera RC, Kruszka P, Muenke M, Dissanayake VHW.
    BMC Med Genomics; 2018 May 08; 11(1):44. PubMed ID: 29739404
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  • 10. Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter.
    De Brasi D, Rossi E, Giglio S, D'Agostino A, Titomanlio L, Farina V, Andria G, Sebastio G.
    Am J Med Genet; 2001 Nov 22; 104(2):127-30. PubMed ID: 11746042
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  • 11. Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat.
    Meza-Espinoza JP, Sáinz González E, León-León CJN, Arámbula-Meraz E, Contreras-Gutiérrez JA, García-Magallanes N, Madueña-Molina J, Luque-Ortega F, Cervín-Serrano S, Picos-Cárdenas VJ.
    Mol Cytogenet; 2020 Nov 22; 13():17. PubMed ID: 32467733
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  • 13. Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes.
    Kulikowski LD, Bellucco FT, Nogueira SI, Christofolini DM, Smith Mde A, de Mello CB, Brunoni D, Melaragno MI.
    Am J Med Genet A; 2008 Oct 15; 146A(20):2663-7. PubMed ID: 18798309
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  • 14. [Cytogenetic and molecular characterization of a patient with partial 6q trisomy and 1q monosomy].
    Qin F, Lu X, Feng Y, Tang P, Niu G, Li F, Zhang J.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Apr 15; 33(2):231-4. PubMed ID: 27060323
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