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Journal Abstract Search

205 related items for PubMed ID: 2240050

  • 1. Adjacent-2 disjunction of a maternal t(9;22) leading to duplication 9pter----q22 and deficiency of 22pter----q11.2.
    Pivnick EK, Wilroy RS, Summitt JB, Tucker B, Herrod HG, Tharapel AT.
    Am J Med Genet; 1990 Sep; 37(1):92-6. PubMed ID: 2240050
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  • 2. Trisomy 16pter to 16q12.1 and monosomy 22pter to 22q11.2 resulting from adjacent-2 segregation of a maternal complex chromosome rearrangement.
    Xu J, Chernos J, Roland B.
    Am J Med Genet; 1997 Dec 19; 73(3):327-9. PubMed ID: 9415693
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  • 4. 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 Dec 19; 46(4):419-21. PubMed ID: 16278518
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  • 5. Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocation.
    Mori MA, Gomar JL, Diaz de Bustamante A, Ananias A, Pinel I, Martinez-Frias ML.
    Am J Med Genet; 1987 Jan 19; 26(1):203-6. PubMed ID: 3812563
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  • 6. Two cases of partial trisomy 10q syndrome due to a familial 10;20 translocation.
    Tüysüz B, Hacihanefioglu S, Silahtaroglu A, Yilmaz S, Deviren A, Cenani A.
    Genet Couns; 2000 Jan 19; 11(4):355-61. PubMed ID: 11140413
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  • 8. Balanced complex rearrangement involving chromosomes 8, 9, and 12 in a normal mother, derivative chromosome 9 with recombinant chromosome 12 in her daughter with minor anomalies.
    Masuno M, Asano J, Yasuda K, Kondo T, Orii T.
    Am J Med Genet; 1993 Jan 01; 45(1):65-7. PubMed ID: 8418663
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  • 9. First report of management and outcome of pregnancies associated with hereditary orotic aciduria.
    Bensen JT, Nelson LH, Pettenati MJ, Block SM, Brusilow SW, Livingstone LR, Burton BK.
    Am J Med Genet; 1991 Dec 15; 41(4):426-31. PubMed ID: 1776631
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  • 10. Unbalanced karyotype due to adjacent 1 segregation of t(11;22)(q23.3;q13.2).
    Tachdjian G, Muti C, Gaudelus J, Druart L, Martin B, Tamboise E, Nessmann C.
    Ann Genet; 1992 Dec 15; 35(4):231-3. PubMed ID: 1296521
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  • 11. A dysmorphic newborn infant with a complex rearrangement involving chromosomes 2, 4, and 6 detected by fluorescence in situ hybridization (FISH).
    Hoffman DJ, Punnett HH, Pyeritz RE.
    Am J Perinatol; 2004 Feb 15; 21(2):69-71. PubMed ID: 15017469
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  • 12. Duplication 16q12----qter arising from 3:1 segregation in a 46,XX,t(13;16) (q12;q12) mother.
    Pérez-Castillo A, Martin-Lucas MA, Abrisqueta JA.
    Ann Genet; 1990 Feb 15; 33(2):121-3. PubMed ID: 2241087
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  • 15. Prenatal detection of deletion 6q13q15 in a complex karyotype.
    Yu M, Obringer AC, Fowler MH, Hummel M, Wenger SL.
    Prenat Diagn; 2005 Dec 15; 25(12):1084-7. PubMed ID: 16231325
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  • 16. Familial t(4;13) with abnormal offspring in three generations.
    Najafzadeh TM, Littman VA, Dumars KW.
    Am J Med Genet; 1983 Sep 15; 16(1):15-22. PubMed ID: 6638065
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  • 18. Inherited t(9;22) as the cause of DiGeorge syndrome: a case report.
    Shuib S, Abdul Latif Z, Abidin NZ, Akmal SN, Zakaria Z.
    Malays J Pathol; 2009 Dec 15; 31(2):133-6. PubMed ID: 20514857
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  • 19. Partial duplication 8q12----q21.2 in two sibs with maternally derived insertional and reciprocal translocations: case reports and review of partial duplications of chromosome 8.
    Walker AP, Bocian M.
    Am J Med Genet; 1987 May 15; 27(1):3-22. PubMed ID: 3300332
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  • 20. Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: case report and review of the literature.
    Van Hove JL, McConkie-Rosell A, Chen YT, Iafolla AK, Lanman JT, Hennessy MD, Kahler SG.
    Am J Med Genet; 1992 Sep 01; 44(1):24-30. PubMed ID: 1519645
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