249 related articles for article (PubMed ID: 27759572)
1. De-novo 'pure' partial trisomy (6)(p22.3→pter): a case report and review of the literature.
Sivasankaran A; Murthy K; Oruganti VP; Deenadayalu A; R Samuel C; Kandukuri LR
Clin Dysmorphol; 2017 Jan; 26(1):26-32. PubMed ID: 27759572
[TBL] [Abstract][Full Text] [Related]
2. De novo "pure" partial trisomy (6)(p22.1-->pter) in a chromosome 15 with an enlarged satellite, identified by microdissection.
Engelen JJ; Marcelis CL; Alofs MG; Loneus WH; Pulles-Heintzberger CF; Hamers AJ
Am J Med Genet; 2001 Feb; 99(1):48-53. PubMed ID: 11170093
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Chromosomal 10Q26 trisomy resulting from paternal T(9;10)(PTER;Q26.1).
Hou JW
J Formos Med Assoc; 2003 Dec; 102(12):887-92. PubMed ID: 14976570
[TBL] [Abstract][Full Text] [Related]
6. Two cases of 9p deletion syndrome and a case of partial trisomy 8 and partial monosomy 9p.
Okten G; Sezer O; Günes S; Küçüködük S; Oğur G
Genet Couns; 2009; 20(4):341-7. PubMed ID: 20162869
[TBL] [Abstract][Full Text] [Related]
7. Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.
Brisset S; Joly G; Ozilou C; Lapierre JM; Gosset P; LeLorc'h M; Raoul O; Turleau C; Vekemans M; Romana SP
Am J Med Genet; 2002 Dec; 113(4):339-45. PubMed ID: 12457405
[TBL] [Abstract][Full Text] [Related]
8. Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients.
Szabó GP; Knegt AC; Ujfalusi A; Balogh E; Szabó T; Oláh É
Am J Med Genet A; 2012 Apr; 158A(4):869-76. PubMed ID: 22407767
[TBL] [Abstract][Full Text] [Related]
9. Trisomy 3q25.1-qter and monosomy 8p23.1-pter in a patient: cytogenetic and molecular analysis with delineation of the phenotype.
Zafra de la Rosa G; Venegas-Vega CA; Monroy N; Contreras-Bucio G; Friedrich U; Houman M; Saad A; Fernández P; Kofman-Alfaro S; Cervantes A
Am J Med Genet A; 2005 Jul; 136(3):259-64. PubMed ID: 15957183
[TBL] [Abstract][Full Text] [Related]
10. A familial complex chromosome translocation resulting in duplication of 6p25.
Vermeesch JR; Thoelen R; Fryns JP
Ann Genet; 2004; 47(3):275-80. PubMed ID: 15337473
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation.
Hosono K; Kawase K; Kurata K; Niimi Y; Saitsu H; Minoshima S; Ohnishi H; Yamamoto T; Hikoya A; Tachibana N; Fukao T; Yamamoto T; Hotta Y
Ophthalmic Genet; 2020 Apr; 41(2):175-182. PubMed ID: 32223580
[No Abstract] [Full Text] [Related]
13. Pure 6p22-pter trisomic patient: refined FISH characterization and genotype-phenotype correlation.
Giardino D; Finelli P; Caufin D; Gottardi G; Lo Vasco R; Turolla L; Larizza L
Am J Med Genet; 2002 Feb; 108(1):36-40. PubMed ID: 11857547
[TBL] [Abstract][Full Text] [Related]
14. Genotype/phenotype analysis in a patient with pure and complete trisomy 12p.
Zumkeller W; Volleth M; Muschke P; Tönnies H; Heller A; Liehr T; Wieacker P; Stumm M
Am J Med Genet A; 2004 Sep; 129A(3):261-4. PubMed ID: 15326625
[TBL] [Abstract][Full Text] [Related]
15. Molecular cytogenetic characterization of a de novo unbalanced translocation leading to trisomy 17q25-->qter and monosomy 18p11.3-->pter in a girl with dysmorphic features.
Velagaleti GV; Jalal SM; Michaelis RC; Rowe TF; Nichols JR; Lockhart LH
Clin Dysmorphol; 2003 Jan; 12(1):29-33. PubMed ID: 12514362
[TBL] [Abstract][Full Text] [Related]
16. Paternal origin of der(X)t(X;6) in a girl with trisomy 6p and unbalanced t(6;10) mosaicism in her mother.
Petković I; Barisić I; Bastić M; Hećimović S; Bago R
Am J Med Genet A; 2003 Jul; 120A(2):266-71. PubMed ID: 12833412
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Distal 10q trisomy with copy number gain in chromosome region 10q23.1-10q25.1: the Wnt signaling pathway is the most pertinent to the gene content in the region of copy number gain: a case report.
Wong SL; Chou HH; Chao CN; Leung JH; Chen YH; Hsu CD
BMC Res Notes; 2015 Jun; 8():250. PubMed ID: 26088875
[TBL] [Abstract][Full Text] [Related]
20. Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly, craniosynostosis and abnormal maternal serum biochemistry.
Chen CP; Chen M; Chen CY; Chern SR; Wu PS; Chang SP; Kuo YL; Chen WL; Pan CW; Wang W
Gene; 2014 Feb; 536(2):425-9. PubMed ID: 24374139
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]