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Items: 1 to 20 of 194

1.

A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus.

Sismani C, Donoghue J, Alexandrou A, Karkaletsi M, Christopoulou S, Konstantinidou AE, Livanos P, Patsalis PC, Velissariou V.

Gene. 2013 Nov 1;530(1):138-42. doi: 10.1016/j.gene.2013.08.032. Epub 2013 Aug 22.

PMID:
23973723
2.

Clinical and molecular description of the prenatal diagnosis of a fetus with a maternally inherited microduplication 22q11.2 of 2.5 Mb.

Christopoulou G, Sismani C, Sakellariou M, Saklamaki M, Athanassiou V, Velissariou V.

Gene. 2013 Sep 25;527(2):694-7. doi: 10.1016/j.gene.2013.02.044. Epub 2013 Mar 16.

PMID:
23506827
3.
4.

Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization.

Linhares ND, Valadares ER, da Costa SS, Arantes RR, de Oliveira LR, Rosenberg C, Vianna-Morgante AM, Svartman M.

Meta Gene. 2016 Jul 7;9:185-90. doi: 10.1016/j.mgene.2016.07.004. eCollection 2016 Sep.

5.

Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review.

Cheng SF, Rauen KA, Pinkel D, Albertson DG, Cotter PD.

Am J Med Genet A. 2005 Jun 15;135(3):308-13. Review.

PMID:
15887264
6.

3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: prenatal diagnosis and aCGH characterization.

Chen CP, Lin CJ, Chen YY, Wang LK, Chern SR, Wu PS, Su JW, Chen LF, Town DD, Pan CW, Wang W.

Gene. 2013 Dec 10;532(1):80-6. doi: 10.1016/j.gene.2013.09.025. Epub 2013 Sep 18. Review.

PMID:
24055486
7.

Molecular genetic and cytogenetic characterization of a partial Xp duplication and Xq deletion in a patient with premature ovarian failure.

Kim MK, Seok HH, Kim YS, Chin MU, Sung SR, Lee WS, Shim SH, Yoon TK.

Gene. 2014 Jan 15;534(1):54-9. doi: 10.1016/j.gene.2013.10.026. Epub 2013 Oct 19.

PMID:
24148559
8.

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.

Lugtenberg D, de Brouwer AP, Oudakker AR, Pfundt R, Hamel BC, van Bokhoven H, Bongers EM.

Am J Med Genet A. 2009 Feb 15;149A(4):760-6. doi: 10.1002/ajmg.a.32742.

PMID:
19291773
9.

Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59 Mb in 10p15.3-p14 and 4.22 Mb in 10q26.3.

Christopoulou G, Tzetis M, Konstantinidou AE, Tsezou A, Kanavakis E, Kitsiou-Tzeli S, Velissariou V.

Eur J Med Genet. 2012 Jan;55(1):75-9. doi: 10.1016/j.ejmg.2011.08.002. Epub 2011 Sep 9.

PMID:
21914491
10.

Inv dup del(9p): prenatal diagnosis and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization.

Chen CP, Su YN, Chern SR, Hsu CY, Tsai FJ, Wu PC, Lee CC, Chen YT, Lee MS, Wang W.

Taiwan J Obstet Gynecol. 2011 Mar;50(1):67-73. doi: 10.1016/j.tjog.2011.01.038.

11.

Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature.

Sifakis S, Eleftheriades M, Kappou D, Murru R, Konstantinidou A, Orru S, Ziegler M, Liehr T, Manolakos E, Papoulidis I.

Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):284-93. doi: 10.1002/bdra.23213. Epub 2014 Feb 12. Review.

PMID:
24677675
12.

Partial monosomy 13q (13q21.32--->qter) and partial trisomy 8p (8p1--->pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization.

Chen CP, Su YN, Tsai FJ, Lin MH, Wu PC, Chern SR, Lee CC, Pan CW, Wang W.

Taiwan J Obstet Gynecol. 2011 Jun;50(2):205-11. doi: 10.1016/j.tjog.2010.04.001.

13.

Chromosome 15q overgrowth syndrome: prenatal diagnosis, molecular cytogenetic characterization, and perinatal findings in a fetus with dup(15)(q26.2q26.3).

Chen CP, Lin YH, Au HK, Su YN, Hsu CY, Liu YP, Wu PC, Chern SR, Chen YT, Chen LF, Hsieh AH, Wang W.

Taiwan J Obstet Gynecol. 2011 Sep;50(3):359-65. doi: 10.1016/j.tjog.2011.07.004.

14.

Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region.

Gabbett MT, Peters GB, Carmichael JM, Darmanian AP, Collins FA.

Clin Genet. 2008 Apr;73(4):353-9. doi: 10.1111/j.1399-0004.2007.00960.x. Epub 2008 Feb 13.

PMID:
18279435
15.

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
16.

9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.

Sismani C, Anastasiadou V, Kousoulidou L, Parkel S, Koumbaris G, Zilina O, Bashiardes S, Spanou E, Kurg A, Patsalis PC.

Eur J Med Genet. 2011 Sep-Oct;54(5):e510-5. doi: 10.1016/j.ejmg.2011.05.006. Epub 2011 Jun 17.

PMID:
21684358
17.

Molecular cytogenetic characterization of Xp22.32→pter deletion and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion.

Chen CP, Chen CY, Chern SR, Wu PS, Chen YN, Chen SW, Lee CC, Town DD, Lee MS, Yang CW, Wang W.

Taiwan J Obstet Gynecol. 2016 Oct;55(5):705-711. doi: 10.1016/j.tjog.2016.05.009.

18.

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) associated with abnormal maternal serum biochemistry.

Chen CP, Hwang KS, Su HY, Lin SP, Su YN, Chern SR, Su JW, Chen YT, Chen WL, Wang W.

Taiwan J Obstet Gynecol. 2013 Mar;52(1):125-8. doi: 10.1016/j.tjog.2012.08.002.

19.

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
20.

De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency.

Brisset S, Kasakyan S, L'Herminé AC, Mairovitz V, Gautier E, Aubry MC, Benkhalifa M, Tachdjian G.

Prenat Diagn. 2006 Mar;26(3):206-13.

PMID:
16450348

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