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Items: 1 to 20 of 206

2.

Trisomy 1q42-qter associated with monosomy 6q27-qter: a case report.

Tartaglia E, Mastrantonio P, Costa D, Giugliano B, Porcellini A, Costagliola C.

Eur J Ophthalmol. 2011 May-Jun;21(3):315-9. doi: 10.5301/EJO.2010.5796.

PMID:
20954143
3.

Prenatal diagnosis of microdeletion 16p13.11 combination with partial monosomy of 2q37.1-qter and partial trisomy of 7p15.3-pter in a fetus with bilateral ventriculomegaly, agenesis of corpus callosum, and polydactyly.

Sung PL, Chang CM, Chen CY, Wang PH, Chao KC, Wen KC, Cheng YY, Li YC, Lin CC.

Taiwan J Obstet Gynecol. 2012 Jun;51(2):260-5. doi: 10.1016/j.tjog.2012.04.017.

4.

Partial monosomy 8q and partial trisomy 9q due to the maternal translocation t(8;9(q24.3;q34.1): a case report.

Tos T, Alp MY, Eker HK, Cebi AH, Ikbal M.

Genet Couns. 2014;25(1):35-9.

PMID:
24783653
5.
6.

De novo satellited 2q associated with corpus callosum dysgenesis, short stature, mental retardation and developmental delay.

Chen CP, Lin SP, Huang YL, Chern SR, Su JW, Lee CC, Chen WL, Wang W.

Genet Couns. 2012;23(4):497-503.

PMID:
23431751
7.

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
8.

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
9.

Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes.

Cervantes A, García-Delgado C, Fernández-Ramírez F, Galaz-Montoya C, Morales-Jiménez AB, Nieto-Martínez K, Gómez-Laguna L, Villa-Morales J, Quintana-Palma M, Berúmen J, Kofman S, Morán-Barroso VF.

BMC Med Genomics. 2014 Sep 15;7:55. doi: 10.1186/1755-8794-7-55.

10.

Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients.

Szabó GP, Knegt AC, Ujfalusi A, Balogh E, Szabó T, Oláh É.

Am J Med Genet A. 2012 Apr;158A(4):869-76. doi: 10.1002/ajmg.a.35236. Epub 2012 Mar 9.

PMID:
22407767
11.

Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature.

la Cour Sibbesen E, Jespersgaard C, Alosi D, Bisgaard AM, Tümer Z.

Am J Med Genet A. 2013 Jun;161A(6):1447-52. doi: 10.1002/ajmg.a.35901. Epub 2013 Apr 30.

PMID:
23633410
12.

Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes.

Kulikowski LD, Bellucco FT, Nogueira SI, Christofolini DM, Smith Mde A, de Mello CB, Brunoni D, Melaragno MI.

Am J Med Genet A. 2008 Oct 15;146A(20):2663-7. doi: 10.1002/ajmg.a.32510.

PMID:
18798309
13.

[Cytogenetic and molecular characterization of a patient with partial 6q trisomy and 1q monosomy].

Qin F, Lu X, Feng Y, Tang P, Niu G, Li F, Zhang J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Apr;33(2):231-4. doi: 10.3760/cma.j.issn.1003-9406.2016.02.023. Chinese.

PMID:
27060323
14.

Partial trisomy 1(q42-->qter): a new case with a mild phenotype.

Concolino D, Cinti R, Ferraro L, Moricca MT, Strisciuglio P.

J Med Genet. 1998 Jan;35(1):75-7. Review.

15.
16.

Dup(1q)(q42-->qter) syndrome: case report and review of literature.

Kennerknecht I, Barbi G, Rodens K.

Am J Med Genet. 1993 Dec 1;47(8):1157-60.

PMID:
7507296
18.
19.

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.

20.

[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

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