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Items: 16

1.

Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: an association with Hunter-McAlpine syndrome?

Sellars EA, Zimmerman SL, Smolarek T, Hopkin RJ.

Am J Med Genet A. 2011 Jun;155A(6):1409-13. doi: 10.1002/ajmg.a.33997. Epub 2011 May 12.

PMID:
21567924
2.

Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q.

Thomas JA, Manchester DK, Prescott KE, Milner R, McGavran L, Cohen MM Jr.

Am J Med Genet. 1996 Apr 24;62(4):372-5. Review.

PMID:
8723067
3.

Supernumerary marker chromosomes 5: confirmation of a critical region and resultant phenotype.

D'Amato Sizonenko L, Ng D, Oei P, Winship I.

Am J Med Genet. 2002 Jul 22;111(1):19-26. Review.

PMID:
12124728
4.

Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q.

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

Am J Med Genet A. 2006 Jul 15;140(14):1594-600. Review.

PMID:
16770806
5.

A patient with 13q-syndrome with mild mental retardation and with growth retardation.

Stoll C, Alembik Y.

Ann Genet. 1998;41(4):209-12. Review.

PMID:
9881184
6.

[Phenotype positioning on chromosomes in a patient with the syndrome of partial trisomy 7p21.2-->pter].

Liang DS, Wu LQ, Cai F, Xia K, Long ZG, Pan Q, Dai HP, Xia JH.

Yi Chuan Xue Bao. 2005 Feb;32(2):124-9. Review. Chinese.

PMID:
15759858
7.

Tetrasomy 21 as a sole chromosome abnormality in acute myeloid leukemia. fluorescence in situ hybridization and spectral karyotyping analyses.

Ohsaka A, Hisa T, Watanabe N, Kojima H, Nagasawa T.

Cancer Genet Cytogenet. 2002 Apr 1;134(1):60-4. Review.

PMID:
11996798
9.

4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate.

Kobayashi J, Kimijima Y, Yamada S, Amagasa T, Saito-Ohara F.

J Craniomaxillofac Surg. 2000 Jun;28(3):165-70. Review.

PMID:
10964553
10.

Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q.

Eggermann T, Gamerdinger U, Bosse K, Heidrich-Kaul C, Raff R, Meyer E, Heil I, Schüler H, Korsch E, Schwanitz G.

Am J Med Genet A. 2005 Apr 30;134(3):305-8. Review.

PMID:
15723300
11.

Interstitial deletion of chromosome 5 in a neonate due to maternal insertion, ins(8;5)(p23;q33q35).

Gibbons B, Tan SY, Kee SK, Quaife R, Lim ST.

Am J Med Genet. 1999 Sep 17;86(3):289-93. Review.

PMID:
10482883
12.

Chromosome 5q subtelomeric deletion syndrome.

Rauch A, Dörr HG.

Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):372-6. Review.

PMID:
17910075
13.

De novo duplication (5)(q31.3q33.3): report of a patient and characterization of the duplicated region using microdissection and FISH.

Sanchez-Garcia JF, de Die-Smulders CE, Weber JW, Jetten AG, Loneus WH, Hamers AJ, Engelen JJ.

Am J Med Genet. 2001 Apr 15;100(1):56-61. Review.

PMID:
11337750
14.

Interstitial deletion of 8q13.3-->22.1 associated with craniosynostosis.

Fryburg JS, Golden WL.

Am J Med Genet. 1993 Mar 1;45(5):638-41. Review.

PMID:
7681252
15.

Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22.

Verheij JB, Bouman K, van Lingen RA, van Lookeren Campagne JG, Leegte B, van der Veen AY, Hofstra RM, Buys CH, van Essen AJ.

Am J Med Genet. 1999 Sep 10;86(2):168-73. Review.

PMID:
10449655
16.

Duplication of the distal long arm of chromosome 15: report of three new patients and review of the literature.

Roggenbuck JA, Mendelsohn NJ, Tenenholz B, Ladda RL, Fink JM.

Am J Med Genet A. 2004 May 1;126A(4):398-402. Review.

PMID:
15098238
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