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Journal Abstract Search

285 related items for PubMed ID: 23072190

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  • 2. Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.
    Jamsheer A, Sowińska A, Simon D, Jamsheer-Bratkowska M, Trzeciak T, Latos-Bieleńska A.
    BMC Med Genet; 2013 Jan 24; 14():13. PubMed ID: 23342975
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  • 4. 3p partial trisomy and 13q partial monosomy with congenital malformations and psychomotor developmental delay.
    Rodovalho-Doriqui MJ, Freitas PL, Pinho JD, Cavalli LR, Pereira SR.
    Genet Mol Res; 2013 Jul 24; 12(3):2562-6. PubMed ID: 23979887
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  • 5. 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 Jul 24; 23(4):447-55. PubMed ID: 23431743
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  • 7. Monosomy 9p24-->pter and trisomy 5q31-->qter: case report and review of two cases.
    Schimmenti LA, Higgins RR, Mendelsohn NJ, Casey TM, Steinberger J, Mammel MC, Wiesner GL.
    Am J Med Genet; 1995 May 22; 57(1):52-6. PubMed ID: 7645598
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  • 8. Rapid aneuploidy diagnosis of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization using uncultured amniocytes.
    Chen CP, Lin SP, Su YN, Tsai FJ, Wu PC, Town DD, Chen LF, Lee MS, Wang W.
    Taiwan J Obstet Gynecol; 2012 Mar 22; 51(1):93-9. PubMed ID: 22482977
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  • 12. Pure partial monosomy 3p (3p25.3 → pter): prenatal diagnosis and array comparative genomic hybridization characterization.
    Chen CP, Su YN, Chen CY, Su JW, Chern SR, Town DD, Wang W.
    Taiwan J Obstet Gynecol; 2012 Sep 22; 51(3):435-9. PubMed ID: 23040932
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  • 18. Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/ duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype.
    Murru D, Boccone L, Ristaldi MS, Nucaro AL.
    Genet Couns; 2008 Sep 22; 19(4):381-6. PubMed ID: 19239081
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  • 19. Partial trisomy 1p (1p36.22-->pter) and partial monosomy 9p (9p22.2-->pter) associated with achalasia, flexion deformity of the fingers and epilepsy in a girl.
    Chen CP, Lin SP, Lee CC, Town DD, Wang W.
    Genet Couns; 2006 Sep 22; 17(3):301-6. PubMed ID: 17100198
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  • 20. 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 Sep 22; 25(1):35-9. PubMed ID: 24783653
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