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Journal Abstract Search

88 related items for PubMed ID: 1610120

  • 1. 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; 35(1):48-50. PubMed ID: 1610120
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  • 2. A severely mentally and motor retarded girl with monosomy 3pter-->p25 and trisomy 8q24-->qter due to a familial reciprocal translocation t(3;8)(p25;q24).
    Balci S, Aypar E, Beksaç MS, Bartsch O.
    Genet Couns; 2009; 20(2):125-32. PubMed ID: 19650409
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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; 42(2):91-4. PubMed ID: 10434122
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  • 5. Distal monosomy of the long arm of chromosome 6 (6q25----6qter) inherited by maternal translocation t(6q;17q).
    Oliveira-Duarte MH, Martelli-Soares LR, Sarquis-Cintra T, Machado ML, Lison MP.
    Ann Genet; 1990; 33(1):56-9. PubMed ID: 2195984
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  • 6. Complex translocation among chromosomes 2, 3, 9, 15, 18, 20 in a patient with 3p-syndrome.
    Omrani MD, Saleh Gargari S, Azizi F, Safavi Naini N, Omrani S.
    Arch Iran Med; 2014 Jul; 17(7):521-2. PubMed ID: 24979567
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  • 7. Dissociation of tdic chromosomes: about a t(15;18)(p11;p11) leading to 18p monosomy.
    Garcia-Esquivel L, Rivera H, Sanchez-Corona J, Ramirez ML, Jimenez M, Cantú JM.
    Ann Genet; 1987 Jul; 30(2):94-7. PubMed ID: 3499849
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  • 8. 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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  • 9. Characterization of a derivative chromosome 17 by fish-technique.
    Ramesh KH, Shah HO, Sherman J, Lin JH, Verma RS.
    Ann Genet; 1996 Jul; 39(3):177-80. PubMed ID: 8839891
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  • 11. Spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial trisomy 7p (7p21.2-->pter) and partial monosomy 12q (12q24.33-->qter).
    Chen CP, Lin SP, Lin CC, Li YC, Hsieh LJ, Huang JK, Lee CC, Wang W.
    Genet Couns; 2006 Jul; 17(1):57-63. PubMed ID: 16719278
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  • 13. Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter).
    Chen CP, Chern SR, Lin CC, Wang TH, Li YC, Hsieh LJ, Lee CC, Hua HM, Wang W.
    Prenat Diagn; 2006 Apr; 26(4):313-20. PubMed ID: 16506269
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  • 14. "Pure" monosomy 21 pter leads to q21 in a girl born to a couple 46,XX,t(14;21)(p12;q22) and 46,XY,t(5;18)(q32;q22).
    Rivera H, Rivas F, Plascencia L, Cantú JM.
    Ann Genet; 1983 Apr; 26(4):234-7. PubMed ID: 6607704
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  • 15. Translocation (3;12) (p21-pter; q24.1-qter) and phenylketonuria.
    Ganguly BB, Dalvi R, Mehta AV.
    Cytobios; 2001 Apr; 106(411):63-70. PubMed ID: 11478664
    [Abstract] [Full Text] [Related]

  • 16. Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24).
    Callier P, Faivre L, Marle N, Thauvin-Robinet C, Mosca AL, Masurel-Paulet A, Borgnon J, Falcon-Eicher S, Danino A, Malka G, Le Merrer M, Huet F, Mugneret F.
    Eur J Med Genet; 2007 Apr; 50(6):455-64. PubMed ID: 17720646
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  • 17. De novo unbalanced t(11q;21q) leading to a partial monosomy 21pter-q22.2 and 11q24-qter in a patient initially diagnosed as monosomy 21.
    Riegel M, Baumer A, Piram A, Ortolan D, Peres LC, Pina-Neto JM.
    Genet Couns; 2001 Apr; 12(1):69-75. PubMed ID: 11332980
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  • 18. Reciprocal translocation t(1;15)(p36.2;p11.2): confirmation of a suggestive cytogenetic diagnosis by in situ hybridization and clinical case report on resulting monosomy (1p).
    Barbi G, Kennerknecht I, Klett C.
    Am J Med Genet; 1992 Jul 01; 43(4):722-5. PubMed ID: 1621764
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  • 19. Maternal origin of extra marker chromosome 1Q31.1-qter and 13pter-q12.12 in a child with dysmorhic features.
    Rao VB, Kerketta L, Korgaonkar S, Ghosh K, Mohanty D.
    Genet Couns; 2005 Jul 01; 16(2):139-43. PubMed ID: 16082769
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