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Items: 1 to 20 of 69

1.

De novo trisomy 20p of paternal origin.

Chaabouni M, Turleau C, Karboul L, Jemaa LB, Maazoul F, Attié-Bitach T, Romana S, Chaabouni H.

Am J Med Genet A. 2007 May 15;143A(10):1100-3.

PMID:
17431912
2.

Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication.

Moog U, Engelen JJ, de Die-Smulders CE, Albrechts JC, Loneus WH, Haagen AA, Raven EJ, Hamers AJ.

Clin Genet. 1994 Dec;46(6):423-9. Review.

PMID:
7889659
3.

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 30;136(3):259-64. Review.

PMID:
15957183
4.

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 15;99(1):48-53. Review.

PMID:
11170093
5.

Trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3 p13.3).

Cervera M, Sánchez S, Molina B, Alcántara MA, Del Castillo V, Carnevale A, González-del Angel A.

Am J Med Genet A. 2005 Aug 1;136A(4):381-5. Review.

PMID:
16001443
6.

[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. Review. French.

PMID:
1872531
7.

Cytogenetic and molecular analysis in trisomy 12p.

Allen TL, Brothman AR, Carey JC, Chance PF.

Am J Med Genet. 1996 May 3;63(1):250-6. Review.

PMID:
8723118
8.

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 15;113(4):339-45. Review.

PMID:
12457405
9.

Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.

Yatsenko SA, Treadwell-Deering D, Krull K, Lewis RA, Glaze D, Stankiewicz P, Lupski JR, Potocki L.

Am J Med Genet A. 2005 Oct 1;138A(2):175-80. Review.

PMID:
16152635
10.

Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review.

Blanc P, Gouas L, Francannet C, Giollant M, Vago P, Goumy C.

Am J Med Genet A. 2008 May 15;146A(10):1307-11. doi: 10.1002/ajmg.a.32278. Review.

PMID:
18384146
11.

De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literature.

Bartolini L, Sartori S, Lenzini E, Rigon C, Cainelli E, Agrati C, Toldo I, Donà M, Trevisson E.

Gene. 2013 Jul 25;524(2):368-72. doi: 10.1016/j.gene.2013.04.033. Epub 2013 Apr 21. Review.

PMID:
23612255
12.

Partial trisomy 2q: report of a patient with dup (2)(q33.1q35).

Sebold CD, Romie S, Szymanska J, Torres-Martinez W, Thurston V, Muesing C, Vance GH.

Am J Med Genet A. 2005 Apr 1;134A(1):80-3. Review.

PMID:
15690398
13.

[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. Review. Chinese.

PMID:
15759858
15.

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 15;140(24):2802-6. Review.

PMID:
17103460
16.

Partial trisomy of 7q: case report and literature review.

Scelsa B, Bedeschi FM, Guerneri S, Lalatta F, Introvini P.

J Child Neurol. 2008 May;23(5):572-9. Epub 2007 Dec 3. Review.

PMID:
18056692
17.

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. Review.

PMID:
17786114
18.

A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.

Cai T, Tagle DA, Xia X, Yu P, He XX, Li LY, Xia JH.

J Med Genet. 1997 Sep;34(9):772-6. Review.

19.

Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion.

Chaabouni M, Martinovic J, Sanlaville D, Attié-Bittach T, Caillat S, Turleau C, Vekemans M, Morichon N.

Eur J Med Genet. 2006 Nov-Dec;49(6):487-93. Epub 2006 Apr 25. Review.

PMID:
17142120
20.

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. Review.

PMID:
27759572

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