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Items: 1 to 20 of 209

1.

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
2.

Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat.

Goodman BK, Stone K, Coddett JM, Cargile CB, Gurewitsch ED, Blakemore KJ, Stetten G.

Prenat Diagn. 1999 Dec;19(12):1150-6. Review.

PMID:
10590434
3.

Inv dup del(10q): identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements.

Chen CP, Chen M, Su YN, Huang JP, Ma GC, Chang SP, Chern SR, Chen YT, Su JW, Lee CC, Town DD, Wang W.

Taiwan J Obstet Gynecol. 2012 Jun;51(2):245-52. doi: 10.1016/j.tjog.2012.04.015.

4.

Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.

Beaujard MP, Jouannic JM, Bessières B, Borie C, Martin-Luis I, Fallet-Bianco C, Portnoï MF.

Prenat Diagn. 2005 Jun;25(6):451-5.

PMID:
15966060
5.

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter.

Gruchy N, Jacquemont ML, Lyonnet S, Labrune P, El Kamel I, Siffroi JP, Portnoï MF.

Am J Med Genet A. 2007 Oct 15;143A(20):2417-22.

PMID:
17853488
6.
7.

Two unbalanced segregation products due to a maternal t(7;16)inv(16).

Leegte B, Sikkema-Raddatz B, Hordijk R, Davelaar I, van der Veen A, Cobben JM.

Prenat Diagn. 2001 Jul;21(7):550-2.

PMID:
11494289
8.

Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization.

Zenger-Hain JL, Van Dyke DL, Wiktor A, Walker H, Feldman GL.

Am J Med Genet. 1993 Dec 1;47(8):1198-201.

PMID:
8291556
9.
10.

Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4.

Cotter PD, Kaffe S, Li L, Gershin IF, Hirschhorn K.

Am J Med Genet. 2001 Jul 22;102(1):76-80.

PMID:
11471177
11.

Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model.

Leclercq S, Maincent K, Baverel F, Tessier DL, Letourneur F, Lebbar A, Dupont JM.

Am J Med Genet A. 2009 Mar;149A(3):437-45. doi: 10.1002/ajmg.a.32640.

PMID:
19206177
12.

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
13.

Fluorescence in situ hybridization and single nucleotide polymorphism of a new case with inv dup del(8p).

Caglayan AO, Engelen JJ, Ghesquiere S, Alofs M, Saatci C, Dundar M.

Genet Couns. 2009;20(4):333-40.

PMID:
20162868
14.

A de novo complex karyotype with two independent balanced translocations and a double inversion of chromosome 6 presenting with multiple congenital anomalies.

Kline AD, Griffin CA, Haddadin MH, Chudoba I, Morsberger LA, Hawkins AL, Amato RS, Munshi G, Cohen MM.

Am J Med Genet A. 2004 Aug 30;129A(2):124-9.

PMID:
15316975
15.

Telomere capture as a frequent mechanism for stabilization of the terminal chromosomal deletion associated with inverted duplication.

Yu S, Graf WD.

Cytogenet Genome Res. 2010;129(4):265-74. doi: 10.1159/000315887. Epub 2010 Jul 6.

PMID:
20606397
16.

Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter.

De Brasi D, Rossi E, Giglio S, D'Agostino A, Titomanlio L, Farina V, Andria G, Sebastio G.

Am J Med Genet. 2001 Nov 22;104(2):127-30.

PMID:
11746042
17.

Paracentric inversion involving the long arm of chromosome 9 resulting in deletion of abl gene.

Kleyman SM, Parekh AJ, Rodriguez AR, Conte RA, Verma RS.

Am J Med Genet. 1997 Feb 11;68(4):409-11.

PMID:
9021012
18.

Inverted duplication with terminal deletion of 5p and no cat-like cry.

Wang JC, Coe BP, Lomax B, MacLeod PM, Parslow MI, Schein JE, Lam WL, Eydoux P.

Am J Med Genet A. 2008 May 1;146A(9):1173-9. doi: 10.1002/ajmg.a.32246.

PMID:
18266247
19.

Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis.

Soler A, Sánchez A, Carrió A, Badenas C, Milà M, Borrell A.

Prenat Diagn. 2003 Apr;23(4):319-22.

PMID:
12673638
20.

[Inverted duplication of the short arm of chromosome 8].

Rodríguez Martínez L, Jiménez Muñoz-Delgado N, Nieto C, Martínez Carrascal A, López Grondona F, Martínez Frías ML.

An Esp Pediatr. 2001 Nov;55(5):458-62. Spanish.

PMID:
11696311
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