563 related articles for article (PubMed ID: 16516886)
21. Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.
Huang XL; Isabel de Michelena M; Leon E; Maher TA; McClure R; Milunsky A
Clin Genet; 2007 Nov; 72(5):434-40. PubMed ID: 17894838
[TBL] [Abstract][Full Text] [Related]
22. A familial inverted duplication 2q33-q34 identified and delineated by multiple cytogenetic techniques.
Eussen BH; van de Laar I; Douben H; van Kempen L; Hochstenbach R; De Man SA; Van Opstal D; de Klein A; Poddighe PJ
Eur J Med Genet; 2007; 50(2):112-9. PubMed ID: 17161033
[TBL] [Abstract][Full Text] [Related]
23. Detection of chromosome aberrations in Chinese children with autism using G-banding and BAC FISH.
Liu QJ; Ma F; Li D; Wang XW; Tian WY; Chen Y; Feng JB; Lu X; Chen DQ; Chen XN; Shen Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Jun; 22(3):254-7. PubMed ID: 15952108
[TBL] [Abstract][Full Text] [Related]
24. Pure familial 6q21q22.1 duplication in two generations.
Pazooki M; Lebbar A; Roubergues A; Baverel F; Letessier D; Dupont JM
Eur J Med Genet; 2007; 50(1):60-5. PubMed ID: 17071147
[TBL] [Abstract][Full Text] [Related]
25. 9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.
Sismani C; Anastasiadou V; Kousoulidou L; Parkel S; Koumbaris G; Zilina O; Bashiardes S; Spanou E; Kurg A; Patsalis PC
Eur J Med Genet; 2011; 54(5):e510-5. PubMed ID: 21684358
[TBL] [Abstract][Full Text] [Related]
26. Duplication of 7p21.2-->pter due to maternal 7p;21q translocation: implications for critical segment assignment in the 7p duplication syndrome.
Cai T; Yu P; Tagle DA; Xia J
Am J Med Genet; 1999 Oct; 86(4):305-11. PubMed ID: 10494083
[TBL] [Abstract][Full Text] [Related]
27. High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q.
Hermsen MA; Tijssen M; Acero IH; Meijer GA; Ylstra B; Toral JF
Eur J Med Genet; 2005; 48(3):310-8. PubMed ID: 16179226
[TBL] [Abstract][Full Text] [Related]
28. Boy with an interstitial 1q (q31q41) duplication confirmed by fluorescent in situ hybridisation.
Sillén A; Wadelius C; Annerén G
Am J Med Genet; 1998 Nov; 80(2):163-8. PubMed ID: 9805135
[TBL] [Abstract][Full Text] [Related]
29. A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms.
Coppola A; Striano P; Gimelli S; Ciampa C; Santulli L; Caranci F; Zuffardi O; Gimelli G; Striano S; Zara F
Brain Dev; 2010 Mar; 32(3):248-52. PubMed ID: 19216040
[TBL] [Abstract][Full Text] [Related]
30. A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.
Gijsbers AC; Bijlsma EK; Weiss MM; Bakker E; Breuning MH; Hoffer MJ; Ruivenkamp CA
Eur J Med Genet; 2008; 51(5):479-87. PubMed ID: 18547887
[TBL] [Abstract][Full Text] [Related]
31. [The application and significance in prenatal diagnosis using G-banding, fluorescence in situ hybridization and comparative genomic hybridization].
Zhang WS; Chen QN; Wu XH; Liang QH
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Apr; 26(2):156-60. PubMed ID: 19350506
[TBL] [Abstract][Full Text] [Related]
32. 15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.
Koochek M; Harvard C; Hildebrand MJ; Van Allen M; Wingert H; Mickelson E; Holden JJ; Rajcan-Separovic E; Lewis ME
Clin Genet; 2006 Feb; 69(2):124-34. PubMed ID: 16433693
[TBL] [Abstract][Full Text] [Related]
33. Characterization of an analphoid, neocentromere-positive inv dup 8p marker chromosome using multiplex whole chromosome and sub-telomere FISH analyses.
Velinov M; Gu H; Genovese M; Duncan C; Warburton P; Brooks SS; Jenkins EC
Ann Genet; 2004; 47(2):199-205. PubMed ID: 15183754
[TBL] [Abstract][Full Text] [Related]
34. Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: unusual chromosome 9 variant.
Lukusa T; Devriendt K; Holvoet M; Fryns JP
Am J Med Genet; 2000 Mar; 91(3):192-7. PubMed ID: 10756341
[TBL] [Abstract][Full Text] [Related]
35. [Cytogenetic and molecular genetic study of a case with 8p inverted duplication deletion syndrome].
Han X; Zhang JM; Jiang WT; Hu Q; Tao J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2010 Aug; 27(4):361-6. PubMed ID: 20677137
[TBL] [Abstract][Full Text] [Related]
36. Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.
Haddad MR; Mignon-Ravix C; Cacciagli P; Mégarbané A; Villard L
Eur J Med Genet; 2009; 52(4):211-7. PubMed ID: 19379847
[TBL] [Abstract][Full Text] [Related]
37. Delineation of a duplication map of chromosome 3q: a new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region.
Rizzu P; Haddad BR; Vallcorba I; Alonso A; Ferro MT; Garcia-Sagredo JM; Baldini A
Am J Med Genet; 1997 Feb; 68(4):428-32. PubMed ID: 9021016
[TBL] [Abstract][Full Text] [Related]
38. [New chromosomal syndromes].
Schluth-Bolard C; Till M; Edery P; Sanlaville D
Pathol Biol (Paris); 2008 Sep; 56(6):380-7. PubMed ID: 18467039
[TBL] [Abstract][Full Text] [Related]
39. CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.
Dupont C; Pipiras E; Chantot-Bastaraud S; Verloes A; Baumann C; Wolf JP; Benzacken B
Eur J Hum Genet; 2003 Jun; 11(6):452-6. PubMed ID: 12774038
[TBL] [Abstract][Full Text] [Related]
40. A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome.
Hassed SJ; Hopcus-Niccum D; Zhang L; Li S; Mulvihill JJ
Clin Genet; 2004 May; 65(5):400-4. PubMed ID: 15099348
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]