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Items: 1 to 20 of 104

1.

Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10.

Weimer J, Heidemann S, von Kaisenberg CS, Grote W, Arnold N, Bens S, Caliebe A.

Mol Cytogenet. 2011 Dec 5;4:28. doi: 10.1186/1755-8166-4-28.

2.

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 15;120A(2):266-71.

PMID:
12833412
3.
4.

A 14-year follow-up of a case detected prenatally of partial trisomy 13q21.32-qter and monosomy 18q22.3-qter as a result of a maternal complex chromosome rearrangement involving chromosomes 6, 13, and 18.

Quadrelli R, Quadrelli A, Milunsky A, Zou YS, Huang XL, Viera E, Mechoso B, Bellini S, Costabel M, Vaglio A.

Genet Test Mol Biomarkers. 2009 Jun;13(3):387-93. doi: 10.1089/gtmb.2008.0120.

PMID:
19473082
5.

Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection.

Delatycki MB, Voullaire L, Francis D, Petrovic V, Robertson A, Webber LM, Slater HR.

J Med Genet. 1999 Apr;36(4):335-8.

6.

Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes.

Röthlisberger B, Kotzot D, Brecevic L, Koehler M, Balmer D, Binkert F, Schinzel A.

Eur J Hum Genet. 1999 Dec;7(8):873-83.

7.

Exceptional complex chromosomal rearrangements in three generations.

Kartapradja H, Marzuki NS, Pertile MD, Francis D, Suciati LP, Anggaratri HW, Ambarwati DD, Idris FP, Lesmana H, Trimarsanto H, Paramayuda C, Harahap AR.

Case Rep Genet. 2015;2015:321014. doi: 10.1155/2015/321014. Epub 2015 Feb 3.

9.

YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome.

Nadal M, Milà M, Pritchard M, Mur A, Pujals J, Blouin JL, Antonarakis SE, Ballesta F, Estivill X.

Hum Genet. 1996 Oct;98(4):460-6.

PMID:
8792823
10.

Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).

Plomp AS, Engelen JJ, Albrechts JC, de Die-Smulders CE, Hamers AJ.

J Med Genet. 1998 Jul;35(7):604-8. Review.

11.

Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.

Tyson C, McGillivray B, Chijiwa C, Rajcan-Separovic E.

Am J Med Genet A. 2004 Sep 1;129A(3):254-60.

PMID:
15326624
12.

Chromosomal 10Q26 trisomy resulting from paternal T(9;10)(PTER;Q26.1).

Hou JW.

J Formos Med Assoc. 2003 Dec;102(12):887-92.

PMID:
14976570
13.

Familial translocation t(6;20)(p21;p13) resulting in partial trisomy 6p and partial monosomy 20p: report of a new case and review of the literature.

Berner AL, Bağci S, Wohlleber E, Engels E, Müller A, Bartmann P, Weber RG, Reutter H.

Cytogenet Genome Res. 2012;136(4):308-13. doi: 10.1159/000337019. Epub 2012 Mar 17. Review.

15.

Trisomy 12p and monosomy 4p: phenotype-genotype correlation.

Benussi DG, Costa P, Zollino M, Murdolo M, Petix V, Carrozzi M, Pecile V.

Genet Test Mol Biomarkers. 2009 Apr;13(2):199-204.

PMID:
19378504
16.

Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9p22-->pter and trisomy 10p11.2-->pter and 11q21 analysed by dual and triple colour FISH.

Stankiewicz P, Kostyk E, Bocian E, Stańczak H, Parczewska J, Piatkowska E, Mazurczak T, Pietrzyk JJ.

J Med Genet. 1997 Aug;34(8):696-9.

17.

Array-CGH study of partial trisomy 9p without mental retardation.

Bouhjar IB, Hannachi H, Zerelli SM, Labalme A, Gmidène A, Soyah N, Missaoui S, Sanlaville D, Elghezal H, Saad A.

Am J Med Genet A. 2011 Jul;155A(7):1735-9. doi: 10.1002/ajmg.a.34044. Epub 2011 May 27.

PMID:
21626676
18.

Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7).

Courtens W, Vroman S, Vandenhove J, Wiedemann U, Schinzel A.

Prenat Diagn. 2001 Aug;21(8):642-8. Review.

PMID:
11536263
19.

Characterization of familial partial 10p trisomy by chromosomal microdissection, FISH, and microsatellite dosage analysis.

Stone D, Ning Y, Guan XY, Kaiser-Kupfer M, Wynshaw-Boris A, Biesecker L.

Hum Genet. 1996 Oct;98(4):396-402.

PMID:
8792811
20.

A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2-q22.1 with complex translocation t(8;20) in a family with intellectual disability.

Assawamakin A, Wattanasirichaigoon D, Tocharoentanaphol C, Waeteekul S, Tansatit M, Thongnoppakhun W, Limwongse C.

Am J Med Genet A. 2012 Apr;158A(4):901-8. doi: 10.1002/ajmg.a.35259. Epub 2012 Mar 14.

PMID:
22419381

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