236 related articles for article (PubMed ID: 12872809)
1. Partial monosomy 11q and trisomy 12q: variable expression in two siblings.
Lukusa T; Holvoet M; Vermeesch JR; Devriendt K; Fryns JP
Genet Couns; 2003; 14(2):155-64. PubMed ID: 12872809
[TBL] [Abstract][Full Text] [Related]
2. 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; 22(1):35-40. PubMed ID: 21614986
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Distal 11q monosomy syndrome: a report of two Egyptian sibs with normal parental karyotypes confirmed by molecular cytogenetics.
Afifi HH; Zaki MS; El-Gerzawy AM; Kayed HF
Genet Couns; 2008; 19(1):47-58. PubMed ID: 18564501
[TBL] [Abstract][Full Text] [Related]
5. Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype.
Mach M; Windpassinger C; Wagner K; Kroisel PM; Petek E
Genet Couns; 2007; 18(1):9-16. PubMed ID: 17515297
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Unbalanced t(4;11)(q32;q23) in a 34-year-old man with manifestations of distal monosomy 11q and trisomy 4q syndromes.
Byatt SA; Baker E; Richards RI; Roberts C; Smith A
Am J Med Genet; 1997 Jun; 70(4):357-60. PubMed ID: 9182774
[TBL] [Abstract][Full Text] [Related]
8. Partial trisomy 3p and partial monosomy 11q associated with atrial septal defect, cleft palate, and developmental delay: a case report.
Tan EC; Lim E; Cham B; Knight L; Ng I
Cytogenet Genome Res; 2011; 134(4):319-24. PubMed ID: 21654159
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Pure trisomy 2p syndrome in two siblings with an unbalanced translocation and minimal terminal 12q monosomy characterized by high-density microarray.
Martínez-Juárez A; Uribe-Figueroa L; Quintana-Palma M; Razo-Aguilera G; Sevilla-Montoya R
Cytogenet Genome Res; 2014; 142(4):249-54. PubMed ID: 24751616
[TBL] [Abstract][Full Text] [Related]
11. A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.
Courtens W; Wauters J; Wojciechowski M; Reyniers E; Scheers S; van Luijk R; Rooms L; Kooy F; Wuyts W
Clin Dysmorphol; 2007 Oct; 16(4):231-9. PubMed ID: 17786114
[TBL] [Abstract][Full Text] [Related]
12. A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations.
Vaglio A; Milunsky A; Huang XL; Quadrelli A; Mechoso B; Quadrelli R
Eur J Med Genet; 2007; 50(3):224-32. PubMed ID: 17329177
[TBL] [Abstract][Full Text] [Related]
13. 2q35qter duplication syndrome: phenotypic definition.
Grammatico P; Di Rosa C; Rinaldi R; Roccella M; Cupilari F; Sbezzi T; Del Porto G
Genet Couns; 1997; 8(4):327-34. PubMed ID: 9457503
[TBL] [Abstract][Full Text] [Related]
14. Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter).
Chen CP; Chern SR; Lin CC; Wang TH; Li YC; Hsieh LJ; Lee CC; Hua HM; Wang W
Prenat Diagn; 2006 Apr; 26(4):313-20. PubMed ID: 16506269
[TBL] [Abstract][Full Text] [Related]
15. [11q distal trisomy due to a familial 11;18 translocation].
Menéndez I; Rivera H; Morales E; Juan J; Jiménez M
Bol Med Hosp Infant Mex; 1990 Nov; 47(11):792-4. PubMed ID: 2285470
[TBL] [Abstract][Full Text] [Related]
16. [4p trisomy secondary to paternal translocation t(4p-;15q+)].
Saad A; Khelif M; Kharrat H; Bouzakoura C
Ann Pediatr (Paris); 1991 May; 38(5):350-4. PubMed ID: 1872531
[TBL] [Abstract][Full Text] [Related]
17. 11q- syndrome: three cases and a review of the literature.
Leegte B; Kerstjens-Frederikse WS; Deelstra K; Begeer JH; van Essen AJ
Genet Couns; 1999; 10(3):305-13. PubMed ID: 10546104
[TBL] [Abstract][Full Text] [Related]
18. A patient with partial duplication 2q and partial deficiency 11q.
Ho CK; Henderson KC; Bowyer FP; Eilers KB; Andrews LG
Am J Med Genet; 1987 Nov; 28(3):575-9. PubMed ID: 3322008
[TBL] [Abstract][Full Text] [Related]
19. A 3p deletion syndrome in a child with both del(3)(p25-->pter) and dup(17)(q23-->qter).
Lukusa T; Devriendt K; Fryns JP
Ann Genet; 1999; 42(2):91-4. PubMed ID: 10434122
[TBL] [Abstract][Full Text] [Related]
20. Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case.
Tuğ E; Yirmibeş Karaoğuz M; Kayhan G; Ergün MA; Perçin FE
Am J Med Genet A; 2014 Jul; 164A(7):1770-6. PubMed ID: 24677787
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]