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Items: 18

1.

Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints.

Chen CP, Chang YL, Chern SR, Wu PS, Su JW, Chen WL, Chen LF, Wang W.

Gene. 2013 Mar 1;516(1):132-7. doi: 10.1016/j.gene.2012.12.052.

PMID:
23266805
2.

Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter).

Chen CP, Chern SR, Lin CC, Wang TH, Li YC, Hsieh LJ, Lee CC, Hua HM, Wang W.

Prenat Diagn. 2006 Apr;26(4):313-20. Review.

PMID:
16506269
3.

Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis.

Chen CP, Chern SR, Wang W, Lee CC, Chen WL, Chen LF, Chang TY, Tzen CY.

Prenat Diagn. 2001 May;21(5):346-50. Review.

PMID:
11360273
4.

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. Review.

PMID:
24055486
5.

Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1-->qter) and partial monosomy 20q (20q13.3-->qter).

Chen CP, Lin SP, Lin CC, Li YC, Chern SR, Chen WM, Lee CC, Hsieh LJ, Wang W.

Prenat Diagn. 2005 Feb;25(2):112-8. Review.

PMID:
15712324
6.

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
7.

Prenatal diagnosis of trisomy 6 mosaicism.

Destree A, Fourneau C, Dugauquier C, Rombout S, Sartenaer D, Gillerot Y.

Prenat Diagn. 2005 May;25(5):354-7. Review.

PMID:
15906424
8.

Prenatal diagnosis of trisomy 1q21-qter: case report and review of literature.

Machlitt A, Kuepferling P, Bommer C, Koerner H, Chaoui R.

Am J Med Genet A. 2005 Apr 15;134A(2):207-11. Review.

PMID:
15704122
9.

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
10.

Terminal 14q32.33 deletion: genotype-phenotype correlation.

Maurin ML, Brisset S, Le Lorc'h M, Poncet V, Trioche P, Aboura A, Labrune P, Tachdjian G.

Am J Med Genet A. 2006 Nov 1;140(21):2324-9. Review.

PMID:
17022077
11.

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
12.

Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature.

Schmidt B, Udink ten Cate F, Weiss M, Koehler U.

Eur J Pediatr. 2012 Jul;171(7):1047-53. doi: 10.1007/s00431-012-1682-z. Review.

PMID:
22302461
13.

Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter.

Sarri C, Gyftodimou J, Avramopoulos D, Grigoriadou M, Pedersen W, Pandelia E, Pangalos C, Abazis D, Kitsos G, Vassilopoulos D, Brøndum-Nielsen K, Petersen MB.

Am J Med Genet. 1997 May 2;70(1):87-94. Review.

PMID:
9129747
14.

Partial trisomy 3p24.3 and partial monosomy 5p15.33: case report and a literature review.

Puvabanditsin S, Memon N, Lambert G, Cross G, El-Khawam R, Botti C, Balbin J.

Genet Couns. 2013;24(1):13-20. Review.

PMID:
23610861
16.

Trisomy/partial monosomy 13 mosaicism associated with relatively mild clinical malformation.

Duckett DP, Porter HJ, Young ID.

Ann Genet. 1992;35(2):113-6. Review.

PMID:
1524408
17.

Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review.

Bregand-White J, Saller DN, Clemens M, Surti U, Yatsenko SA, Rajkovic A.

Am J Med Genet A. 2016 Sep;170(9):2365-71. doi: 10.1002/ajmg.a.37793. Review.

PMID:
27286879
18.

Anatomy of trisomy 18.

Roberts W, Zurada A, Zurada-ZieliŃSka A, Gielecki J, Loukas M.

Clin Anat. 2016 Jul;29(5):628-32. doi: 10.1002/ca.22725. Review.

PMID:
27087248
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