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Items: 1 to 20 of 127

1.

Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient.

Tirado CA, Gotway G, Torgbe E, Iyer S, Dallaire S, Appleberry T, Suterwala M, Garcia R, Valdez F, Patel S, Koduru P.

Am J Med Genet A. 2012 Jan;158A(1):206-14. doi: 10.1002/ajmg.a.34364. Epub 2011 Nov 21.

PMID:
22106088
2.

Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication.

Argiropoulos B, Carter M, Brierley K, Hare H, Bouchard A, Al-Hertani W, Ryan SR, Reid J, Basik M, McGowan-Jordan J, Graham GE.

Am J Med Genet A. 2011 Apr;155A(4):885-91. doi: 10.1002/ajmg.a.33918. Epub 2011 Mar 17.

PMID:
21416596
3.

Case report of rec(7)dup(7q)inv(7)(p22q22) and a review of the recombinants resulting from parental pericentric inversions on any chromosomes.

Ishii F, Fujita H, Nagai A, Ogihara T, Kim HS, Okamoto R, Mino M.

Am J Med Genet. 1997 Dec 19;73(3):290-5. Review.

PMID:
9415687
4.

Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 --> qter.

Tchirikov M, Merinsky A, Strohner M, Bonin M, Beyer V, Haaf T, Bartsch O.

Am J Med Genet A. 2010 Mar;152A(3):721-5. doi: 10.1002/ajmg.a.33238.

PMID:
20186810
5.

Inv21p12q22del21q22 and intellectual disability.

Oliveira R, Dória S, Madureira C, Lima V, Almeida C, Pinho MJ, Ramalho C, Matoso E, Barros A, Carreira IM, Moura CP.

Gene. 2013 Mar 15;517(1):120-4. doi: 10.1016/j.gene.2012.12.045. Epub 2012 Dec 20.

PMID:
23266646
6.

Undetected sex chromosome aneuploidy by chromosomal microarray.

Markus-Bustani K, Yaron Y, Goldstein M, Orr-Urtreger A, Ben-Shachar S.

Prenat Diagn. 2012 Nov;32(11):1117-8. doi: 10.1002/pd.3979. Epub 2012 Oct 4.

PMID:
23034780
7.

Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement.

Manolakos E, Vetro A, Papadopoulou E, Kefalas K, Lagou M, Thomaidis L, Peitsidis P, Sifakis S, Divane A, Ziegler M, Liehr T, Zuffardi O, Papoulidis I.

Cytogenet Genome Res. 2013;140(1):12-20. doi: 10.1159/000350868. Epub 2013 May 4.

PMID:
23652918
8.

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
9.

Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm.

Boyd LJ, Livingston JS, Brown MG, Lawce HJ, Gilhooly JT, Wildin RS, Linck LM, Magenis RE, Pillers DA.

Am J Med Genet A. 2005 Nov 1;138(4):355-60.

PMID:
16177985
10.

[A case with partial trisomy 7 (q34→qter) derived from a paternal reciprocal translocation t(7;14)(q34;q32)].

Xiao B, Ji X, Jiang WT, Zhang JM, Hu Q, Tao J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Dec;28(6):654-7. doi: 10.3760/cma.j.issn.1003-9406.2011.06.012. Chinese.

PMID:
22161098
11.

A paternally derived inverted duplication of 7q with evidence of a telomeric deletion.

Stetten G, Charity LL, Kasch LM, Scott AF, Berman CL, Pressman E, Blakemore KJ.

Am J Med Genet. 1997 Jan 10;68(1):76-81.

PMID:
8986281
12.

[Phenotypic variability in 47, XXX patients: Clinical report of four new cases].

Goldschmidt E, Márquez M, Solari A, Ziembar MI, Laudicina A.

Arch Argent Pediatr. 2010 Aug;108(4):e88-91. doi: 10.1590/S0325-00752010000400012. Spanish.

13.

Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: patient report and review of 20qter duplications.

Starr LJ, Truemper EJ, Pickering DL, Sanger WG, Olney AH.

Am J Med Genet A. 2014 Aug;164A(8):2020-4. doi: 10.1002/ajmg.a.34020. Epub 2014 Jun 20. Review.

PMID:
24954807
14.

Constitutional mosaicism for a chromosome 9 inversion resulting in recombinant aneusomy in an offspring.

Shapira SK, Orr-Urtreger A, Gagos S, Shaffer LG.

Am J Med Genet. 1997 Apr 14;69(4):360-4. Erratum in: Am J Med Genet 1997 Jul 11;71(1):126.

PMID:
9098483
15.

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH.

Tyson C, Harvard C, Locker R, Friedman JM, Langlois S, Lewis ME, Van Allen M, Somerville M, Arbour L, Clarke L, McGilivray B, Yong SL, Siegel-Bartel J, Rajcan-Separovic E.

Am J Med Genet A. 2005 Dec 15;139(3):173-85.

PMID:
16283669
16.

Meiotic segregation analysis in spermatozoa of pericentric inversion carriers using fluorescence in-situ hybridization.

Morel F, Laudier B, Guérif F, Couet ML, Royère D, Roux C, Bresson JL, Amice V, De Braekeleer M, Douet-Guilbert N.

Hum Reprod. 2007 Jan;22(1):136-41. Epub 2006 Aug 17. Review.

PMID:
16917123
17.

Genotype- phenotype correlation in trisomy X: a retrospective study of a selected group of 36 patients and review of literature.

Butnariu L, Rusu C, Caba L, Pânzaru M, Braha E, Grămescu M, Popescu R, Bujoranu C, Gorduza EV.

Rev Med Chir Soc Med Nat Iasi. 2013 Jul-Sep;117(3):714-21. Review.

PMID:
24502039
18.

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.

El-Hattab AW, Fang P, Jin W, Hughes JR, Gibson JB, Patel GS, Grange DK, Manwaring LP, Patel A, Stankiewicz P, Cheung SW.

J Med Genet. 2011 Dec;48(12):840-50. doi: 10.1136/jmedgenet-2011-100125. Epub 2011 Oct 8.

19.

First report of a patient with a mixoploidy 47,XXX/94,XXXXXX.

Rodríguez Criado G, Galán Gómez E, Tizzano EF, García Rodríguez E, Gómez de Terreros I.

Genet Couns. 2007;18(1):99-104.

PMID:
17515305
20.

Three cell line mosaicism involving structural and numerical abnormalities of chromosome 18 in a 3.5-year-old girl: 47,XX,+18/47,XX,+del(18)(q22)/46,XX.

Sutcliffe MJ, Mueller OT, Kousseff BG, Dumont DP, McFarland JA, Mawani F, Conforto D, Ranells JD.

Am J Med Genet. 2001 Aug 1;102(2):192-9.

PMID:
11477615

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