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Items: 1 to 20 of 306

1.

A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2-q22.1 with complex translocation t(8;20) in a family with intellectual disability.

Assawamakin A, Wattanasirichaigoon D, Tocharoentanaphol C, Waeteekul S, Tansatit M, Thongnoppakhun W, Limwongse C.

Am J Med Genet A. 2012 Apr;158A(4):901-8. doi: 10.1002/ajmg.a.35259.

PMID:
22419381
3.

A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q13-->q24.1 and partial monosomy 4q27-->q28 [corrected].

Grasshoff U, Singer S, Liehr T, Starke H, Fode B, Schöning M, Dufke A.

Cytogenet Genome Res. 2003;103(1-2):17-23. Erratum in: Cytogenet Genome Res. 2004;105(1):160.

PMID:
15004458
4.

Familial distal monosomy 3p26.3-pter with trisomy 4q32.2-qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features.

Petriczko E, Biczysko-Mokosa A, Bogdanowicz J, Constantinou M, Zdziennicka E, Horodnicka-Jozwa A, Barg E, Gawlik-Zawislak S, Sulek-Piatkowska A, Dawid G, Walczak M, Pesz K, Kedzia A, Zajaczek S.

Am J Med Genet A. 2012 Jun;158A(6):1442-6. doi: 10.1002/ajmg.a.35345. Review.

PMID:
22581569
5.
6.

Insertional translocation leading to a 4q13 duplication including the EPHA5 gene in two siblings with attention-deficit hyperactivity disorder.

Matoso E, Melo JB, Ferreira SI, Jardim A, Castelo TM, Weise A, Carreira IM.

Am J Med Genet A. 2013 Aug;161A(8):1923-8. doi: 10.1002/ajmg.a.36032.

PMID:
23824631
7.

Inv21p12q22del21q22 and intellectual disability.

Oliveira R, Dória S, Madureira C, Lima V, Almeida C, Pinho MJ, Ramalho C, Matoso E, Barros A, Carreira IM, Moura CP.

Gene. 2013 Mar 15;517(1):120-4. doi: 10.1016/j.gene.2012.12.045.

PMID:
23266646
8.

[Two cases of partial trisomy 8p derived from paternal reciprocal translocation or maternal insertion translocation: clinical features and genetic abnormalities].

Xiao B, Zhang JM, Ji X, Jiang WT, Hu J, Tao J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Jun;28(3):247-50. doi: 10.3760/cma.j.issn.1003-9406.2011.03.002. Chinese.

PMID:
21644216
9.
10.

[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
11.

Segregation of a paternal insertional translocation results in partial 4q monosomy or 4q trisomy in two siblings.

Hegmann KM, Spikes AS, Orr-Urtreger A, Shaffer LG.

Am J Med Genet. 1996 Jan 2;61(1):10-5.

PMID:
8741910
13.

Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).

Plomp AS, Engelen JJ, Albrechts JC, de Die-Smulders CE, Hamers AJ.

J Med Genet. 1998 Jul;35(7):604-8. Review.

14.

Two cases of partial trisomy 10q syndrome due to a familial 10;20 translocation.

Tüysüz B, Hacihanefioglu S, Silahtaroglu A, Yilmaz S, Deviren A, Cenani A.

Genet Couns. 2000;11(4):355-61.

PMID:
11140413
15.

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.

PMID:
22407767
16.
17.

A small (sSMC) chromosome 22 due to a maternal translocation between chromosomes 8 and 22: a case report.

Mundhofir FE, Kooper AJ, Winarni TI, Smits AP, Faradz SM, Hamel BC.

Genet Couns. 2010;21(1):99-108.

PMID:
20420036
19.

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
20.

Three cases of partial trisomy 9q in one generation due to maternal reciprocal t(6;8;9) translocation.

Ten SK, Chin YM, Tan SK, Hassan K.

Clin Genet. 1987 Jun;31(6):359-65.

PMID:
3621636
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