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Journal Abstract Search

219 related items for PubMed ID: 6694186

  • 1. De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11 X 2q14 X 2).
    Mu Y, Van Dyke DL, Weiss L, Olgac S.
    J Med Genet; 1984 Feb; 21(1):57-8. PubMed ID: 6694186
    [Abstract] [Full Text] [Related]

  • 2. Partial trisomy for 2q in a patient with dir dup(2) (q33.1q35).
    Romain DR, Mackenzie NG, Moss D, Columbano-Green LM, Smythe RH, Parfitt RG, Dixon JW.
    J Med Genet; 1994 Aug; 31(8):652-3. PubMed ID: 7815427
    [Abstract] [Full Text] [Related]

  • 3. Tandem dup (1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies.
    Elejalde BR, Opitz JM, de Elejalde MM, Gilbert EF, Abellera M, Meisner L, Lebel RR, Hartigan JM.
    Am J Med Genet; 1984 Apr; 17(4):723-30. PubMed ID: 6539070
    [Abstract] [Full Text] [Related]

  • 4. A malformed girl with duplication of chromosome 9q.
    Nakahori Y, Nakagome Y.
    J Med Genet; 1984 Oct; 21(5):387-8. PubMed ID: 6502654
    [Abstract] [Full Text] [Related]

  • 5. De novo direct duplication 3 (p25-->pter): a previously undescribed chromosomal aberration.
    Kotzot D, Krüger C, Braun-Quentin C.
    Clin Genet; 1996 Aug; 50(2):96-8. PubMed ID: 8937769
    [Abstract] [Full Text] [Related]

  • 6. De novo translocation involving chromosomes 2, 8, and 20.
    Zaletajev DV, Marincheva GS, Tsvetkova TG.
    J Med Genet; 1984 Jun; 21(3):231. PubMed ID: 6748024
    [No Abstract] [Full Text] [Related]

  • 7. De novo interstitial deletion del(1)(p21p32).
    Bene M, Duca-Marinescu A, Ioan D, Maximilian C.
    J Med Genet; 1979 Aug; 16(4):323-7. PubMed ID: 490590
    [Abstract] [Full Text] [Related]

  • 8. The dup(3q) syndrome: report of eight cases and review of the literature.
    Steinbach P, Adkins WN, Caspar H, Dumars KW, Gebauer J, Gilbert EF, Grimm T, Habedank M, Hansmann I, Herrmann J, Kaveggia EG, Langenbeck U, Meisner LF, Najafzadeh TM, Opitz JM, Palmer CG, Peters HH, Scholz W, Tavares AS, Wiedeking C.
    Am J Med Genet; 1981 Aug; 10(2):159-77. PubMed ID: 7315873
    [Abstract] [Full Text] [Related]

  • 9. Interstitial deletion of chromosome 1 (q23-q25). Report of a case.
    Silengo MC, Davi GF, Bianco R, Biagioli M, Guala A, Franceschini P, Novelli G.
    Clin Genet; 1984 Jun; 25(6):549-52. PubMed ID: 6587954
    [Abstract] [Full Text] [Related]

  • 10. Direct duplication of chromosome 1, dir dup(1)(p21.2----p32) in a Bedouin boy with multiple congenital anomalies.
    Mohammed FM, Farag TI, Gunawardana SS, al-Digashim DD, al-Awadi SA, al-Othman SA, Sundareshan TS.
    Am J Med Genet; 1989 Mar; 32(3):353-5. PubMed ID: 2729356
    [Abstract] [Full Text] [Related]

  • 11. Direct duplication 16q11.1----16q13 is not associated with a typical dysmorphic syndrome.
    Fryns JP, Kleczkowska A, Decock P, Van den Berghe H.
    Ann Genet; 1990 Mar; 33(1):46-8. PubMed ID: 2195981
    [Abstract] [Full Text] [Related]

  • 12. Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palate: another clefting gene locus on proximal 2q?
    Riegel M, Schinzel A.
    Am J Med Genet; 2002 Jul 22; 111(1):76-80. PubMed ID: 12124740
    [Abstract] [Full Text] [Related]

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  • 14. Duplication 3q: severe manifestations in an infant with duplication of a short segment of 3q.
    Rosenfeld W, Verma RS, Jhaveri RC, Estrada R, Evans H, Dosik H.
    Am J Med Genet; 1981 Jul 22; 10(2):187-92. PubMed ID: 7315875
    [Abstract] [Full Text] [Related]

  • 15. Inverted tandem duplication generates a duplication deficiency of chromosome 8p.
    Dill FJ, Schertzer M, Sandercock J, Tischler B, Wood S.
    Clin Genet; 1987 Aug 22; 32(2):109-13. PubMed ID: 2888552
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  • 17. De novo inverted tandem duplication of the long arm of chromosome 2(q34 leads to q37).
    Yu CW, Chen H.
    Birth Defects Orig Artic Ser; 1982 Aug 22; 18(3B):311-20. PubMed ID: 7139114
    [No Abstract] [Full Text] [Related]

  • 18. De novo direct tandem duplication of a small segment of the short arm of chromosome 7 (p21.22-->22.1).
    Franz HB, Schliephacke M, Niemann G, Mielke G, Backsch C.
    Clin Genet; 1996 Nov 22; 50(5):426-9. PubMed ID: 9007337
    [Abstract] [Full Text] [Related]

  • 19. Ring chromosome 8 in a boy with multiple congenital abnormalities and mental retardation.
    Hamers AJ, van Kempen C.
    J Med Genet; 1977 Dec 22; 14(6):451-5. PubMed ID: 604497
    [Abstract] [Full Text] [Related]

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