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Items: 1 to 20 of 180

1.

Familial translocation t(6;20)(p21;p13) resulting in partial trisomy 6p and partial monosomy 20p: report of a new case and review of the literature.

Berner AL, Bağci S, Wohlleber E, Engels E, Müller A, Bartmann P, Weber RG, Reutter H.

Cytogenet Genome Res. 2012;136(4):308-13. doi: 10.1159/000337019. Epub 2012 Mar 17. Review.

PMID:
22433391
2.

Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat.

Thomas MA, Duncan AM, Bardin C, Kaloustian VM.

Am J Med Genet A. 2004 Jan 30;124A(3):292-5.

PMID:
14708103
3.

Stillborn baby with partial monosomy of the short arm of chromosome 5 and partial trisomy of the short arm of chromosome 20.

Okada M, Usami A, Okajima K, Yamada M, Yamaguchi Y, Umezaki I, Matsuda Y, Ohta H.

Congenit Anom (Kyoto). 2005 Dec;45(4):161-4.

PMID:
16359498
4.

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
6.

Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome.

Semerci CN, Cinbis M, Ullmann R, Steininger A, Bahce M, Yagci B, Ozden S, Sabir N, Gumus D, Tepeli E, Arteaga J, Mutchinick OM.

Am J Med Genet A. 2010 Jul;152A(7):1724-9. doi: 10.1002/ajmg.a.33383.

PMID:
20578131
7.

Trisomy 2q and monosomy 11q in the same individual: the importance of considering the deleted segment.

Ardinger HH, Patil SR, Rhead WJ.

Clin Genet. 1987 Jun;31(6):381-5.

PMID:
3621640
8.

Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation.

de Carvalho AF, da Silva Bellucco FT, Kulikowski LD, Toralles MB, Melaragno MI.

Hum Genet. 2008 Nov;124(4):387-92. doi: 10.1007/s00439-008-0557-x. Epub 2008 Sep 7.

PMID:
18777129
9.

Partial trisomy 6p and partial monosomy 9p from a de novo translocation 46,XY, -9, +DER(9)T(6:9)(p211:p24).

Eden MS, Thelin JW, Michalski K, Mitchell JA.

Clin Genet. 1985 Nov;28(5):375-84.

PMID:
4085142
10.

Partial trisomy 20p: familial occurrence.

Oppenheimer S, Dignan P, Soukup S.

Am J Med Genet. 2000 Dec 11;95(4):316-9. Review.

PMID:
11186883
11.

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
12.

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.

13.

Partial trisomy 6p from a de novo translocation (6;18) with variable mosaicism in different tissues.

Rudnik-Schöneborn S, Schubert R, Majewski F, Haverkamp F, Schwanitz G.

Clin Genet. 1997 Aug;52(2):126-9.

PMID:
9298749
14.

Familial partial trisomy 5p resulting from segregation of an insertional translocation.

Gustavson KH, Lundberg PO, Nicol P.

Clin Genet. 1988 Jun;33(6):404-9.

PMID:
3168312
15.

Unbalanced karyotype with normal phenotype in a family with translocation (8;13)(p21;q22).

Bröcker-Vriends AH, van de Kamp JJ, Geraedts JP, Bos SE, Nijenhuis TA.

Clin Genet. 1985 May;27(5):487-95.

PMID:
4006274
17.
18.

Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation.

Takeno SS, Corbani M, Andrade JA, Smith Mde A, Brunoni D, Melaragno MI.

Am J Med Genet A. 2004 Aug 30;129A(2):180-3.

PMID:
15316961
19.

High risk for unbalanced segregation of some reciprocal translocations: a large pedigree containing distal 4q trisomy from t(4;7)(q28;p22).

Francisco-Bagnariolli AM, Payão SL, Kawasaki-Oyama RS, Sabbag Filho D, Segato R, de Labio RW, Chauffaille ML, Priest JH.

Am J Med Genet. 2001 Nov 1;103(4):302-7.

PMID:
11746010
20.

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

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