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Items: 1 to 20 of 117

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. Epub 2012 Dec 22.

PMID:
23266805
2.
3.

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
4.

"Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotype.

Grossmann V, Müller D, Müller W, Fresser F, Erdel M, Janecke AR, Zschocke J, Utermann G, Kotzot D.

Am J Med Genet A. 2009 Nov;149A(11):2522-6. doi: 10.1002/ajmg.a.33058.

PMID:
19842202
6.

Rapid aneuploidy diagnosis of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization using uncultured amniocytes.

Chen CP, Lin SP, Su YN, Tsai FJ, Wu PC, Town DD, Chen LF, Lee MS, Wang W.

Taiwan J Obstet Gynecol. 2012 Mar;51(1):93-9. doi: 10.1016/j.tjog.2012.01.019.

7.

Prenatal diagnosis of a partial trisomy 13q (q14-->qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization.

Machado IN, Heinrich JK, Campanhol C, Rodrigues-Peres RM, Oliveira FM, Barini R.

Genet Mol Res. 2010 Mar 16;9(1):441-8. doi: 10.4238/vol9-1gmr716.

8.

Prenatal diagnosis and molecular cytogenetic characterization of a de novo unbalanced reciprocal translocation of der(9)t(9;14)(p24.2;q32.11) associated with 9p terminal deletion and 14q distal duplication.

Chen CP, Lin CJ, Chern SR, Wu PS, Chen YN, Chen SW, Lee CC, Chen LF, Yang CW, Wang W.

Taiwan J Obstet Gynecol. 2016 Aug;55(4):596-601. doi: 10.1016/j.tjog.2016.06.008.

9.

Mosaic deletion-duplication syndrome of chromosome 3: prenatal molecular cytogenetic diagnosis using cultured and uncultured amniocytes and association with fetoplacental discrepancy.

Chen CP, Su YN, Hsu CY, Chern SR, Lee CC, Chen YT, Chen WL, Wang W.

Taiwan J Obstet Gynecol. 2011 Dec;50(4):485-91. doi: 10.1016/j.tjog.2011.10.015.

10.
11.

Prenatal findings and delineation of de novo concurrent partial trisomy 7q(7q31.2 --> qter) and partial monosomy 6q(6q26 --> qter) by high-resolution array CGH.

Choy KW, Chan LW, Tang MH, Ng LK, Leung TY, Lau TK.

J Matern Fetal Neonatal Med. 2009 Nov;22(11):1014-20. doi: 10.3109/14767050902994812.

PMID:
19900039
12.

Distal trisomy 10q/partial monosomy 14q: an unusual clinical picture.

Bregant L, Gersak K, Veble A.

Genet Couns. 2005;16(1):59-63.

PMID:
15844780
13.
14.

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
15.

Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings.

Hagen A, Bigl A, Wand D, Klopocki E, Heller R, Siekmeyer M, Siekmeyer W, Kiess W, Merkenschlager A.

Am J Med Genet A. 2011 Dec;155A(12):3075-81. doi: 10.1002/ajmg.a.34300. Epub 2011 Nov 3.

PMID:
22052712
16.

[Improved identification for 5p deletion syndrome and partial trisomy 11q presented in a fetus by SNP array].

Shi S, Pan G, Yang Y, Yan R, Li W.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Apr;33(2):195-9. doi: 10.3760/cma.j.issn.1003-9406.2016.02.015. Chinese.

PMID:
27060314
17.

A severely mental and motor retarded boy with monosomy 9pter-->p22 trisomy 10q26-->qter due to paternal reciprocal translocation 46,XY,t(9;10)(p23;q26).

Akbas E, Polat S, Karakas-Celik S, Altintas ZM, Yildirim M, Yilgor E.

Genet Couns. 2011;22(4):417-23.

PMID:
22303803
18.

Sacrococcygeal teratoma in a fetus with prenatally diagnosed partial trisomy 10q (10q24.3-->qter) and partial monosomy 17p (p13.3-->pter).

Batukan C, Ozgun MT, Basbug M, Caglayan O, Dundar M, Murat N.

Prenat Diagn. 2007 Apr;27(4):365-8.

PMID:
17295347
19.

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
20.

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

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