141 related articles for article (PubMed ID: 28587431)
21. [Duplication of the long arm of chromosome 3 (dup 3q) in a newborn infant whose the father is carrier of pericentric inversion of chromosome 9].
Ayral D; Raudrant D; Charleux JP; Noel B
Pediatrie; 1984 Dec; 39(8):681-90. PubMed ID: 6598632
[TBL] [Abstract][Full Text] [Related]
22. Partial trisomy 3q in a child with sacrococcygeal teratoma and Cornelia de Lange syndrome phenotype.
Dundar M; Uzak A; Erdogan M; Saatci C; Akdeniz S; Luleci G; Keser I; Karauzum S
Genet Couns; 2011; 22(2):199-205. PubMed ID: 21848013
[TBL] [Abstract][Full Text] [Related]
23. "Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotype.
Grossmann V; Müller D; Müller W; Fresser F; Erdel M; Janecke AR; Zschocke J; Utermann G; Kotzot D
Am J Med Genet A; 2009 Nov; 149A(11):2522-6. PubMed ID: 19842202
[TBL] [Abstract][Full Text] [Related]
24. Further delineation of the dup(3q) syndrome.
Wilson GN; Dasouki M; Barr M
Am J Med Genet; 1985 Sep; 22(1):117-23. PubMed ID: 4050847
[TBL] [Abstract][Full Text] [Related]
25. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.
Beaujard MP; Jouannic JM; Bessières B; Borie C; Martin-Luis I; Fallet-Bianco C; Portnoï MF
Prenat Diagn; 2005 Jun; 25(6):451-5. PubMed ID: 15966060
[TBL] [Abstract][Full Text] [Related]
26. A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion.
Rodríguez L; Bhatt SS; García-Castro M; Plasencia A; Fernández-Toral J; Abarca E; de Bello Cioffi M; Liehr T
Gene; 2014 Feb; 535(2):165-9. PubMed ID: 24316129
[TBL] [Abstract][Full Text] [Related]
27. 22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum.
Ujfalusi A; Nagy O; Bessenyei B; Lente G; Kántor I; Borbély ÁJ; Szakszon K
Mol Syndromol; 2020 Jul; 11(3):146-152. PubMed ID: 32903739
[TBL] [Abstract][Full Text] [Related]
28. First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization.
Gamerdinger U; Bosse K; Eggermann T; Kalscheuer V; Schwanitz G; Engels H
Eur J Med Genet; 2006; 49(3):225-34. PubMed ID: 16762824
[TBL] [Abstract][Full Text] [Related]
29. Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
Tabet AC; Verloes A; Pilorge M; Delaby E; Delorme R; Nygren G; Devillard F; Gérard M; Passemard S; Héron D; Siffroi JP; Jacquette A; Delahaye A; Perrin L; Dupont C; Aboura A; Bitoun P; Coleman M; Leboyer M; Gillberg C; Benzacken B; Betancur C
Mol Autism; 2015; 6():19. PubMed ID: 25844147
[TBL] [Abstract][Full Text] [Related]
30. A case of de novo duplication of 15q24-q26.3.
Kim EY; Kim YK; Kim MK; Jung JM; Jeon GW; Kim HR; Sin JB
Korean J Pediatr; 2011 Jun; 54(6):267-71. PubMed ID: 21949522
[TBL] [Abstract][Full Text] [Related]
31. 3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: prenatal diagnosis and aCGH characterization.
Chen CP; Lin CJ; Chen YY; Wang LK; Chern SR; Wu PS; Su JW; Chen LF; Town DD; Pan CW; Wang W
Gene; 2013 Dec; 532(1):80-6. PubMed ID: 24055486
[TBL] [Abstract][Full Text] [Related]
32. Subchromosomal band interval mapping and ordering of DNA markers in the region 3q26.3-q27 involved in the dup(3q) syndrome.
Rizzu P; Baldini A
Genomics; 1994 Dec; 24(3):580-2. PubMed ID: 7713511
[TBL] [Abstract][Full Text] [Related]
33. 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; 10(2):187-92. PubMed ID: 7315875
[TBL] [Abstract][Full Text] [Related]
34. Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay.
Oliveira JS; Joaquim TM; Silva RABD; Souza DH; Martelli LR; Moretti-Ferreira D
Genet Mol Biol; 2020; 43(1):e20180285. PubMed ID: 31429857
[TBL] [Abstract][Full Text] [Related]
35. Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.
Krantz ID; Tonkin E; Smith M; Devoto M; Bottani A; Simpson C; Hofreiter M; Abraham V; Jukofsky L; Conti BP; Strachan T; Jackson L
Am J Med Genet; 2001 Jun; 101(2):120-9. PubMed ID: 11391654
[TBL] [Abstract][Full Text] [Related]
36. Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1.
Murakami H; Enomoto Y; Kumaki T; Aida N; Kurosawa K
J Hum Genet; 2024 Jan; 69(1):47-52. PubMed ID: 37950019
[TBL] [Abstract][Full Text] [Related]
37. A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome.
Socha M; Szoszkiewicz A; Simon D; Jamsheer A
J Appl Genet; 2023 Feb; 64(1):125-134. PubMed ID: 36586055
[TBL] [Abstract][Full Text] [Related]
38. Prenatal identification of partial 3q duplication syndrome.
Pasińska M; Adamczak R; Repczyńska A; Łazarczyk E; Iskra B; Runge AK; Haus O
BMC Med Genomics; 2019 Jun; 12(1):85. PubMed ID: 31196198
[TBL] [Abstract][Full Text] [Related]
39. A duplication dup(4)(q28q35.2) de novo in a newborn.
Cernakova I; Kvasnicova M; Lovasova Z; Badova N; Drabek J; Bouchalova K; Trojanec R; Hajduch M
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2006 Jul; 150(1):113-6. PubMed ID: 16936912
[TBL] [Abstract][Full Text] [Related]
40. [Trisomy of the short arm of chromosome 10p; description of a female patient with de novo duplication 10p11.2-15].
Fechtrup B; Kalhoff H; Diekmann L; Fritz B
Klin Padiatr; 2000; 212(1):35-40. PubMed ID: 10719682
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]