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Items: 1 to 20 of 103

1.

Tetrasomy 18p in a male dysmorphic child in southeast Turkey.

Balkan M, Duran H, Budak T.

J Genet. 2009 Dec;88(3):337-40. No abstract available.

2.

Tetrasomy 18p caused by paternal meiotic nondisjunction.

Eggermann T, Engels H, Apacik C, Moskalonek B, Müller-Navia J, Schwanitz G, Stengel-Rutkowski S.

Eur J Hum Genet. 1997 May-Jun;5(3):175-7. No abstract available.

PMID:
9272743
3.

Constitutional tetrasomy 18p.

Bakshi SR, Brahmbhatt MM, Trivedi PJ, Chudoba I.

Indian Pediatr. 2006 Apr;43(4):357-60.

4.

Clinical outcome: a monosomy 18p is better than a tetrasomy 18p.

Wei J, Xie Y, He W, Liu W, Jian W, Chen M, Wang D, Wang X, Sun X.

Cytogenet Genome Res. 2014;144(4):294-8. doi: 10.1159/000371461. Epub 2015 Jan 28.

PMID:
25634515
5.

Tetrasomy 21pter-->q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation.

Rost I, Fiegler H, Fauth C, Carr P, Bettecken T, Kraus J, Meyer C, Enders A, Wirtz A, Meitinger T, Carter NP, Speicher MR.

J Med Genet. 2004 Mar;41(3):e26. No abstract available.

6.

Tetrasomy 18p de novo: parental origin and different mechanisms of formation.

Bugge M, Blennow E, Friedrich U, Petersen MB, Pedeutour F, Tsezou A, Orum A, Hermann S, Lyngbye T, Sarri C, Avramopoulos D, Kitsiou S, Lambert JC, Guzda M, Tommerup N, Brøndum-Nielsen K.

Eur J Hum Genet. 1996;4(3):160-7. Erratum in: Eur J Hum Genet 1996;4(5):291.

PMID:
8840116
7.

Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother.

Misceo D, Orstavik KH, Lybaek H, Sandvig I, Ormerod E, Houge G, Frengen E.

Am J Med Genet A. 2009 Dec;149A(12):2877-81. doi: 10.1002/ajmg.a.33106. No abstract available.

PMID:
19938092
8.

The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization.

Callen DF, Freemantle CJ, Ringenbergs ML, Baker E, Eyre HJ, Romain D, Haan EA.

Am J Hum Genet. 1990 Sep;47(3):493-8.

9.

Tetrasomy 18p in two cases confirmation by in situ hybridization.

Esmer MC, Frias S, Gómez L, Carnevale A.

Ann Genet. 1994;37(3):156-9.

PMID:
7847800
10.

De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting.

Back E, Toder R, Voiculescu I, Wildberg A, Schempp W.

Clin Genet. 1994 Jun;45(6):301-4. Review.

PMID:
7923860
11.

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
12.

Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication.

Moog U, Engelen JJ, de Die-Smulders CE, Albrechts JC, Loneus WH, Haagen AA, Raven EJ, Hamers AJ.

Clin Genet. 1994 Dec;46(6):423-9. Review.

PMID:
7889659
13.

Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.

Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G.

Genet Couns. 2005;16(2):129-38.

PMID:
16080292
14.

Stable non-Robertsonian dicentric chromosomes: four new cases and a review.

Lemyre E, der Kaloustian VM, Duncan AM.

J Med Genet. 2001 Jan;38(1):76-9. Review. No abstract available.

15.

Tetrasomy 18p de novo: identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing.

Eggermann T, Engels H, Moskalonek B, Nöthen MM, Müller-Navia J, Schleiermacher E, Schwanitz G, Stengel-Rutkowski S.

Hum Genet. 1996 May;97(5):568-72.

PMID:
8655132
16.

DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother.

DeBerardinis RJ, Medne L, Spinner NB, Zackai EH.

Am J Med Genet A. 2005 Oct 1;138A(2):155-9.

PMID:
16114050
17.

Partial tetrasomy 21 in a male infant.

Slavotinek AM, Chen XN, Jackson A, Gaunt L, Campbell A, Clayton-Smith J, Korenberg JR.

J Med Genet. 2000 Oct;37(10):E30. Review. No abstract available.

18.

The variable phenotype in tetrasomy 18p syndrome. A propos of a subtle dysmorphic case.

Brambila Tapia AJ, Figuera L, Vázquez Cárdenas NA, Ramírez Torres V, Vázquez Velázquez AI, García Contreras C, Ramírez Dueñas ML.

Genet Couns. 2010;21(3):277-83.

PMID:
20964117
19.

Sibs with tetrasomy 18p born to a mother with trisomy 18p.

Takeda K, Okamura T, Hasegawa T.

J Med Genet. 1989 Mar;26(3):195-7. Review.

20.

Prenatal diagnosis of mosaicism for tetrasomy 18p: cytogenetic, fish and morphological findings.

Pinto MR, Silva ML, Ribeiro MC, Pina R.

Prenat Diagn. 1998 Oct;18(10):1095-7.

PMID:
9826905

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