206 related articles for article (PubMed ID: 11992485)
1. Phenotypic spectrum of interstitial 7p duplication in mosaic and non-mosaic forms.
Cox H; Stewart H; Hall L; Donnai D
Am J Med Genet; 2002 May; 109(4):306-10. PubMed ID: 11992485
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. [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]
4. Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/ duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype.
Murru D; Boccone L; Ristaldi MS; Nucaro AL
Genet Couns; 2008; 19(4):381-6. PubMed ID: 19239081
[TBL] [Abstract][Full Text] [Related]
5. Trisomy 7p resulting from isochromosome formation and whole-arm translocation.
Lurie IW; Schwartz MF; Schwartz S; Cohen MM
Am J Med Genet; 1995 Jan; 55(1):62-6. PubMed ID: 7702099
[TBL] [Abstract][Full Text] [Related]
6. A report of pure 7p duplication syndrome and review of the literature.
Papadopoulou E; Sifakis S; Sarri C; Gyftodimou J; Liehr T; Mrasek K; Kalmanti M; Petersen MB
Am J Med Genet A; 2006 Dec; 140(24):2802-6. PubMed ID: 17103460
[TBL] [Abstract][Full Text] [Related]
7. De novo direct duplication 7p (p11.2-->pter) in an Arab child with MCA/MR syndrome: trisomy 7p a delineated syndrome?
Redha MA; Krishna Murthy DS; al-Awadi SA; al-Sulaiman IS; Sabry MA; el-Bahey SA; Farag TI
Ann Genet; 1996; 39(1):5-9. PubMed ID: 9297445
[TBL] [Abstract][Full Text] [Related]
8. Further delineation of 7p trisomy. Case report and review of literature.
Pallotta R; Dalprà L; Fusilli P; Zuffardi O
Ann Genet; 1996; 39(3):152-8. PubMed ID: 8839888
[TBL] [Abstract][Full Text] [Related]
9. Mosaic trisomy 21/monosomy 21 in a living female infant.
Nguyen HP; Riess A; Krüger M; Bauer P; Singer S; Schneider M; Enders H; Dufke A
Cytogenet Genome Res; 2009; 125(1):26-32. PubMed ID: 19617693
[TBL] [Abstract][Full Text] [Related]
10. Trisomy 7p due to a mosaic normal/dir dup(7)(p13----p22). Syndrome delineation, critical segment assignment, and a comment on duplications.
Cantú JM; Rivas F; Ruiz C; Barajas LO; Moller M; Rivera H
Ann Genet; 1985; 28(4):254-7. PubMed ID: 3879442
[TBL] [Abstract][Full Text] [Related]
11. Spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial trisomy 7p (7p21.2-->pter) and partial monosomy 12q (12q24.33-->qter).
Chen CP; Lin SP; Lin CC; Li YC; Hsieh LJ; Huang JK; Lee CC; Wang W
Genet Couns; 2006; 17(1):57-63. PubMed ID: 16719278
[TBL] [Abstract][Full Text] [Related]
12. Tandem duplication 11q23-ter in the dysmorphic child of a retarded mother mosaic for the same anomaly with no apparent abnormalities.
Pfeiffer RA; Schütz C
Ann Genet; 1993; 36(3):163-6. PubMed ID: 8117062
[TBL] [Abstract][Full Text] [Related]
13. Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism.
Faivre L; Viot G; Prieur M; Turleau C; Gosset P; Romana S; Munnich A; Vekemans M; Cormier-Daire V
Am J Med Genet; 2000 Apr; 91(4):273-6. PubMed ID: 10766982
[TBL] [Abstract][Full Text] [Related]
14. Partial duplication 8p due to interstitial duplication: inv dup(8)(p21.1----p22). Further delineation of the phenotype from birth to adulthood.
Kleczkowska A; Fryns JP; D'Hondt F; Jaeken J; Van den Berghe H
Ann Genet; 1987; 30(1):47-51. PubMed ID: 3498429
[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. Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study.
Hsu LY; Yu MT; Richkind KE; Van Dyke DL; Crandall BF; Saxe DF; Khodr GS; Mennuti M; Stetten G; Miller WA; Priest JH
Prenat Diagn; 1996 Jan; 16(1):1-28. PubMed ID: 8821848
[TBL] [Abstract][Full Text] [Related]
17. Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features.
Smeets E; Vandenbossche L; Fryns JP
Genet Couns; 2001; 12(1):85-9. PubMed ID: 11332982
[TBL] [Abstract][Full Text] [Related]
18. Phenotypic and molecular characterization of partial trisomy 2q resulting from insertion-duplication in chromosome 18q: a case report and review of literature.
Ponnala R; Ranganath P; Dutta UR; Pidugu VK; Dalal AB
Cytogenet Genome Res; 2012; 136(3):229-34. PubMed ID: 22398442
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome.
Urioste M; Visedo G; Sanchís A; Sentís C; Villa A; Ludeña P; Hortigüela JL; Martínez-Frías ML; Fernández-Piqueras J
Am J Med Genet; 1994 Jan; 49(1):77-82. PubMed ID: 8172255
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
