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Journal Abstract Search

226 related items for PubMed ID: 15957183

  • 21. Virilization of the external genitalia and severe mental retardation in a girl with an unbalanced translocation 1;18.
    de Pater JM, Poot M, Beemer FA, Bijlsma JB, Hack WW, Van Dam WM, Eleveld MJ, Loneus WH, Engelen JJ.
    Eur J Med Genet; 2006; 49(1):19-27. PubMed ID: 16473306
    [Abstract] [Full Text] [Related]

  • 22. Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9p22-->pter and trisomy 10p11.2-->pter and 11q21 analysed by dual and triple colour FISH.
    Stankiewicz P, Kostyk E, Bocian E, Stańczak H, Parczewska J, Piatkowska E, Mazurczak T, Pietrzyk JJ.
    J Med Genet; 1997 Aug; 34(8):696-9. PubMed ID: 9279768
    [Abstract] [Full Text] [Related]

  • 23. Corpus callosum agenesis in trisomy 8p11.23 and monosomy 4q34 because of maternal translocation.
    Işik U, Başaran S, Dehgan T, Apak M.
    Pediatr Neurol; 2008 Jul; 39(1):55-7. PubMed ID: 18555175
    [Abstract] [Full Text] [Related]

  • 24. 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
    [Abstract] [Full Text] [Related]

  • 25. Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 --> pter and partial trisomy 1q41 --> qter suggests neo-telomere formation in stabilizing the deleted chromosome.
    Kulikowski LD, Christ LA, Nogueira SI, Brunoni D, Schwartz S, Melaragno MI.
    Am J Med Genet A; 2006 Jan 01; 140(1):82-7. PubMed ID: 16333825
    [Abstract] [Full Text] [Related]

  • 26. [Paternally originated Wolf-Hirschhorn syndrome detected by multiplex ligation-dependent probe amplification and microarray comparative genomic hybridization].
    Zhu CJ, Huang ZY, Wu WQ, Zhao Q, Jiang HY, Xie JS.
    Zhonghua Er Ke Za Zhi; 2012 Jun 01; 50(6):460-4. PubMed ID: 22931946
    [Abstract] [Full Text] [Related]

  • 27. Prenatal diagnosis of de novo partial trisomy 13q (13q22 --> qter) and partial monosomy 8p (8p23.3 --> pter) associated with holoprosencephaly, premaxillary agenesis, hexadactyly, and a hypoplastic left heart.
    Chen CP, Chern SR, Hsu CY, Lee CC, Lee MS, Wang W.
    Prenat Diagn; 2005 Apr 01; 25(4):334-6. PubMed ID: 15849788
    [No Abstract] [Full Text] [Related]

  • 28. Unique case of trisomy 2p24.3-pter with no associated monosomy.
    Roggenbuck JA, Fink JM, Mendelsohn NJ.
    Am J Med Genet; 2001 Jun 01; 101(1):50-4. PubMed ID: 11343338
    [Abstract] [Full Text] [Related]

  • 29. Molecular cytogenetic characterization of a derivative chromosome 8 with an inverted duplication of 8p21.3-->p23.3 and a rearranged duplication of 8q24.13-->qter.
    Fan YS, Siu VM.
    Am J Med Genet; 2001 Aug 15; 102(3):266-71. PubMed ID: 11484205
    [Abstract] [Full Text] [Related]

  • 30. Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome--another locus for Brachmann-de Lange syndrome on 4p?
    Mau UA, Backsch C, Schaudt H, Trefz FK, Kaiser P.
    Am J Med Genet; 2000 Mar 20; 91(3):180-4. PubMed ID: 10756338
    [Abstract] [Full Text] [Related]

  • 31. Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3-->qter) and partial trisomy 18q (18q23-->qter) in a fetus associated with cystic hygroma and ambiguous genitalia.
    Chen CP, Chern SR, Wang TH, Hsueh DW, Lee CC, Town DD, Wang W, Ko TM.
    Prenat Diagn; 2005 Jun 20; 25(6):492-6. PubMed ID: 15966044
    [Abstract] [Full Text] [Related]

  • 32. A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome.
    Ounap K, Ilus T, Bartsch O.
    Am J Med Genet A; 2005 May 01; 134(4):434-8. PubMed ID: 15793836
    [Abstract] [Full Text] [Related]

  • 33. Partial trisomy 8p (8p11.2-->pTER) and deletion of 13q (13q32-->qTER): case report.
    Yeşilyurt A, Dilli D, Oguz S, Dilmen U, Altug N, Candemir Z.
    Genet Couns; 2011 May 01; 22(1):35-40. PubMed ID: 21614986
    [Abstract] [Full Text] [Related]

  • 34. Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes.
    Cervantes A, García-Delgado C, Fernández-Ramírez F, Galaz-Montoya C, Morales-Jiménez AB, Nieto-Martínez K, Gómez-Laguna L, Villa-Morales J, Quintana-Palma M, Berúmen J, Kofman S, Morán-Barroso VF.
    BMC Med Genomics; 2014 Sep 15; 7():55. PubMed ID: 25223409
    [Abstract] [Full Text] [Related]

  • 35. Two cases of 9p deletion syndrome and a case of partial trisomy 8 and partial monosomy 9p.
    Okten G, Sezer O, Günes S, Küçüködük S, Oğur G.
    Genet Couns; 2009 Sep 15; 20(4):341-7. PubMed ID: 20162869
    [Abstract] [Full Text] [Related]

  • 36. Familial distal monosomy 5p15.3-pter with trisomy 12q24.2-qter resulting in neurodevelopmental delay and dysmorphic features.
    Čiuladaitė Ž, Matulevičienė A, Bandanskytė A, Brazaitis A, Kasnauskienė J, Kučinskas V.
    J Child Neurol; 2014 Mar 15; 29(3):399-405. PubMed ID: 23340083
    [Abstract] [Full Text] [Related]

  • 37. De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency.
    Brisset S, Kasakyan S, L'Herminé AC, Mairovitz V, Gautier E, Aubry MC, Benkhalifa M, Tachdjian G.
    Prenat Diagn; 2006 Mar 15; 26(3):206-13. PubMed ID: 16450348
    [Abstract] [Full Text] [Related]

  • 38.
    ; . PubMed ID:
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  • 39. Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup(3q) critical region.
    Meins M, Hagh JK, Gerresheim F, Einhoff E, Olschewski H, Strehl H, Epplen JT.
    Am J Med Genet A; 2005 Jan 01; 132A(1):84-9. PubMed ID: 15551338
    [Abstract] [Full Text] [Related]

  • 40. 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 Jan 01; 25(1):35-9. PubMed ID: 24783653
    [Abstract] [Full Text] [Related]

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