151 related articles for article (PubMed ID: 17901705)
1. Duplication dup(1)(q41q44) defined by fluorescence in situ hybridization: delineation of the 'trisomy 1q42-->qter syndrome'.
Coccé MC; Villa O; Obregon MG; Salido M; Barreiro C; Solé F; Gallego MS
Cytogenet Genome Res; 2007; 118(1):84-6. PubMed ID: 17901705
[TBL] [Abstract][Full Text] [Related]
2. Trisomy 1q42 --> qter in a sister and brother: further delineation of the "trisomy 1q42 --> qter syndrome".
Verschuuren-Bemelmans CC; Leegte B; Hodenius TM; Cobben JM
Am J Med Genet; 1995 Jul; 58(1):83-6. PubMed ID: 7573162
[TBL] [Abstract][Full Text] [Related]
3. Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome.
El-Ruby M; Hemly NA; Zaki MS
Genet Couns; 2007; 18(2):217-26. PubMed ID: 17710874
[TBL] [Abstract][Full Text] [Related]
4. Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome".
Rauch A; Trautmann U; Pfeiffer RA
Am J Med Genet; 1996 May; 63(1):243-9. PubMed ID: 8723117
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Prenatal diagnosis of a fetus with pure partial trisomy 1q32-44 due to a familial balanced rearrangement.
Kímya Y; Yakut T; Egelí U; Ozerkan K
Prenat Diagn; 2002 Nov; 22(11):957-61. PubMed ID: 12424755
[TBL] [Abstract][Full Text] [Related]
7. Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies.
Morava E; Jackson KE; Tsien F; Marble MR
Genet Couns; 2004; 15(4):449-53. PubMed ID: 15658621
[TBL] [Abstract][Full Text] [Related]
8. Partial trisomy of the distal part of 10q: a report of two Egyptian cases.
Aglan MS; Kamel AK; Helmy NA
Genet Couns; 2008; 19(2):199-209. PubMed ID: 18618995
[TBL] [Abstract][Full Text] [Related]
9. A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.
Peeters H; Vermeesch J; Fryns JP
Genet Couns; 2008; 19(4):365-71. PubMed ID: 19239079
[TBL] [Abstract][Full Text] [Related]
10. Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature.
Engelen JJ; De Die-Smulders CE; Vos PT; Meers LE; Albrechts JC; Hamers AJ
Ann Genet; 1999; 42(2):101-4. PubMed ID: 10434124
[TBL] [Abstract][Full Text] [Related]
11. Pericentric inversion with partial 7(q35-->qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient.
Lukusa T; Van Buggenhout G; Devriendt K; Fryns JP
Genet Couns; 2002; 13(1):1-10. PubMed ID: 12017231
[TBL] [Abstract][Full Text] [Related]
12. Dup(1q)(q42-->qter) syndrome: case report and review of literature.
Kennerknecht I; Barbi G; Rodens K
Am J Med Genet; 1993 Dec; 47(8):1157-60. PubMed ID: 7507296
[TBL] [Abstract][Full Text] [Related]
13. Partial trisomy 1q (1q32-->1qter) in adulthood: further delineation of the phenotype.
Van Buggenhout G; De Coen L; Fryns JP
Ann Genet; 1998; 41(2):77-81. PubMed ID: 9706337
[TBL] [Abstract][Full Text] [Related]
14. Trisomy of 8q22.3 approximately q23-qter following an unbalanced 1;8 translocation in a boy with multiple anomalies.
Ergun MA; Balci S; Konaç E; Kan D; Menevşe S; Bartsch O
Turk J Pediatr; 2004; 46(4):384-7. PubMed ID: 15641279
[TBL] [Abstract][Full Text] [Related]
15. A case with mosaic partial duplication of 1q: prenatal and postmortem clinical and cytogenetic evaluations.
Karaoguz MY; Biri A; Pala E; Kan D; Poyraz A; Kurdoglu M; Percin EF
Genet Couns; 2006; 17(2):197-204. PubMed ID: 16970038
[TBL] [Abstract][Full Text] [Related]
16. Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter.
De Brasi D; Rossi E; Giglio S; D'Agostino A; Titomanlio L; Farina V; Andria G; Sebastio G
Am J Med Genet; 2001 Nov; 104(2):127-30. PubMed ID: 11746042
[TBL] [Abstract][Full Text] [Related]
17. Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region.
Tschernigg M; Petek E; Wagner K; Kroisel PM
Genet Couns; 2002; 13(1):29-33. PubMed ID: 12017235
[TBL] [Abstract][Full Text] [Related]
18. [Phenotype positioning on chromosomes in a patient with the syndrome of partial trisomy 7p21.2-->pter].
Liang DS; Wu LQ; Cai F; Xia K; Long ZG; Pan Q; Dai HP; Xia JH
Yi Chuan Xue Bao; 2005 Feb; 32(2):124-9. PubMed ID: 15759858
[TBL] [Abstract][Full Text] [Related]
19. Duplication of chromosome region (16)(p11.2 --> p12.1) in a mother and daughter with mild mental retardation.
Engelen JJ; de Die-Smulders CE; Dirckx R; Verhoeven WM; Tuinier S; Curfs LM; Hamers AJ
Am J Med Genet; 2002 Apr; 109(2):149-53. PubMed ID: 11977164
[TBL] [Abstract][Full Text] [Related]
20. Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.
Bartholdi D; Toelle SP; Steiner B; Boltshauser E; Schinzel A; Riegel M
Eur J Med Genet; 2008; 51(2):113-23. PubMed ID: 18262484
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]