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Journal Abstract Search

329 related items for PubMed ID: 24979567

  • 1.
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  • 2. Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3.
    Narahara K, Kikkawa K, Murakami M, Hiramoto K, Namba H, Tsuji K, Yokoyama Y, Kimoto H.
    Am J Med Genet; 1990 Feb; 35(2):269-73. PubMed ID: 2178418
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  • 4. A 3p deletion syndrome in a child with both del(3)(p25-->pter) and dup(17)(q23-->qter).
    Lukusa T, Devriendt K, Fryns JP.
    Ann Genet; 1999 Feb; 42(2):91-4. PubMed ID: 10434122
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  • 5. Additional chromosome in a child as a result of a balanced reciprocal translocation t(12;18)(p13;q12) in his mother's karyotype.
    Lassota M, Przełozna B, Płodzien M, Bugno M, Wnuk M, Kotylak Z, Słota E.
    J Appl Genet; 2005 Feb; 46(4):419-21. PubMed ID: 16278518
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  • 6. Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype.
    Mach M, Windpassinger C, Wagner K, Kroisel PM, Petek E.
    Genet Couns; 2007 Feb; 18(1):9-16. PubMed ID: 17515297
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  • 7. A new case of monosomy for 17q25----qter due to a maternal translocation [t(3;17)(p12;q24)].
    Luke S, Bennett HS, Pitter JH, Verma RS.
    Ann Genet; 1992 Feb; 35(1):48-50. PubMed ID: 1610120
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  • 8. 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 Feb; 23(3):405-13. PubMed ID: 23072190
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  • 9. Short clinical report: a new case with de novo partial 9p monosomy.
    Nagy E, Bod M, Nemeth I, Timar L.
    Acta Paediatr Hung; 1991 Feb; 31(4):407-13. PubMed ID: 1790023
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  • 11. Trisomy 18q: 46,XX,-10,+der(10) t(10;18) (p15;q12) pat: a case report.
    Murthy SK, Kar B, Prabhakara K, Krishnamurthy DS.
    Ann Genet; 1992 Feb; 35(3):174-7. PubMed ID: 1466569
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  • 14. Stillborn baby with partial monosomy of the short arm of chromosome 5 and partial trisomy of the short arm of chromosome 20.
    Okada M, Usami A, Okajima K, Yamada M, Yamaguchi Y, Umezaki I, Matsuda Y, Ohta H.
    Congenit Anom (Kyoto); 2005 Dec; 45(4):161-4. PubMed ID: 16359498
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  • 15. A mild phenotype associated with der(9)t(3;9) (p25;p23).
    McClure RJ, Telford N, Newell SJ.
    J Med Genet; 1996 Jul; 33(7):625-7. PubMed ID: 8818957
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  • 16. An apparent balanced translocation [t(9;11)(p21.2;p14.2)] in a neonate with dysmorphic features.
    Conte RA, Sayegh SE, Verma RS.
    Ann Genet; 1992 Jul; 35(3):164-5. PubMed ID: 1466566
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  • 17. Partial 9p monosomy in a girl with a tdic(9p23;13p11) translocation, minor anomalies, obesity, and mental retardation.
    Serra A, Bova R, Bellanova G, Chindemi A, Zappata S, Brahe C.
    Am J Med Genet; 1997 Aug 08; 71(2):139-43. PubMed ID: 9217211
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  • 18. [Proximal monosomy 13].
    Geormăneanu M, Geormăneanu C.
    Ann Genet; 1990 Aug 08; 33(3):176-8. PubMed ID: 2288464
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  • 19. Deletion of chromosome 3 and a 3;20 reciprocal translocation demonstrated by chromosome painting.
    Crispino B, Cardoso H, Mimbacas A, Méndez V.
    Am J Med Genet; 1995 Jan 02; 55(1):27-9. PubMed ID: 7702091
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  • 20. Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1).
    Torisu H, Yamamoto T, Fujiwaki T, Kadota M, Oshimura M, Kurosawa K, Akaboshi S, Oka A.
    Am J Med Genet A; 2004 Nov 15; 131(1):94-8. PubMed ID: 15384094
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