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Items: 1 to 20 of 94

1.

Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations.

Santos M, Mrasek K, Madrigal I, Martorell MR, González-Meneses A, Rodríguez-Criado G, Milà M, Liehr T, Fuster C.

Am J Med Genet A. 2010 Oct;152A(10):2661-3. doi: 10.1002/ajmg.a.33638. No abstract available.

PMID:
20814948
2.

Clinical impact of somatic mosaicism in cases with small supernumerary marker chromosomes.

Liehr T, Klein E, Mrasek K, Kosyakova N, Guilherme RS, Aust N, Venner C, Weise A, Hamid AB.

Cytogenet Genome Res. 2013;139(3):158-63. doi: 10.1159/000346026. Epub 2012 Dec 29. Review.

PMID:
23295254
3.

[Analysis of the small supernumerary marker chromosome in Turner syndrome with 45, X/46, X, + mar karyotype].

Ye ZC, Cai JG, Zhu XY, Zhao R, He XY, Zhong Y, Liu KX, Zhu YM.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Aug;26(4):461-4. Chinese.

PMID:
20017317
4.

45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism.

Nieto K, Peña R, Palma I, Dorantes LM, Eraña L, Alvarez R, García-Cavazos R, Kofman-Alfaro S, Queipo G.

Am J Med Genet A. 2004 Oct 15;130A(3):311-4.

PMID:
15378545
5.

Mosaic normal/15q11-q13 duplication associated with developmental delay but normal phenotype.

Goossens E, Decock P, Potgieter S, Fryns JP.

Genet Couns. 1999;10(2):133-6.

PMID:
10422005
6.

Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with Klinefelter syndrome.

Heinritz W, Kotzot D, Heinze S, Kujat A, Kleemann WJ, Froster UG.

Am J Med Genet A. 2005 Jan 15;132A(2):198-201.

PMID:
15578587
7.

Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences.

Canto P, Kofman-Alfaro S, Jiménez AL, Söderlund D, Barrón C, Reyes E, Méndez JP, Zenteno JC.

Cancer Genet Cytogenet. 2004 Apr 1;150(1):70-2.

PMID:
15041227
8.

A further case with a small supernumerary marker chromosome (sSMC) derived from chromosome 1--evidence for high variability in mosaicism in different tissues of sSMC carriers.

Fickelscher I, Starke H, Schulze E, Ernst G, Kosyakova N, Mkrtchyan H, MacDermont K, Sebire N, Liehr T.

Prenat Diagn. 2007 Aug;27(8):783-5.

PMID:
17546703
9.

Cloacal defect in a 23-year-old with 47,XXX karyotype and clinical features of Cat Eye syndrome.

Johnston KM, Nevin NC, Park JM.

J Obstet Gynaecol. 2002 Nov;22(6):696. No abstract available.

PMID:
12554278
10.

Turner syndrome and 45,X/47,XXX mosaicism.

Akbas E, Mutluhan H, Savasoglu K, Soylemez F, Ozturk I, Yazici G.

Genet Couns. 2009;20(2):141-6.

PMID:
19650411
11.

Small supernumerary marker chromosomes (sSMC) in patients with a 45,X/46,X,+mar karyotype - 17 new cases and a review of the literature.

Liehr T, Mrasek K, Hinreiner S, Reich D, Ewers E, Bartels I, Seidel J, Emmanuil N, Petesen M, Polityko A, Dufke A, Iourov I, Trifonov V, Vermeesch J, Weise A.

Sex Dev. 2007;1(6):353-62. doi: 10.1159/000111767. Epub 2008 Jan 18. Review.

PMID:
18391547
12.

Unbalanced cryptic 5p deletion/17p duplication identified by subtelomeric FISH in a family with a boy with chimerism and a balanced t(4;5).

Ensenauer R, Jalal S, Meyer R, Babovic-Vuksanovic D.

Am J Med Genet A. 2004 Feb 15;125A(1):86-91.

PMID:
14755472
13.

Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization.

van Langen IM, Otter MA, Aronson DC, Overweg-Plandsoen WC, Hennekam RC, Leschot NJ, Hoovers JM.

Clin Genet. 1996 Jan;49(1):49-53.

PMID:
8721573
14.

Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development.

Karmous-Benailly H, Giuliano F, Massol C, Bloch C, De Ricaud D, Lambert JC, Perelman S.

Eur J Med Genet. 2006 Sep-Oct;49(5):431-8. Epub 2006 Feb 10.

PMID:
16497571
15.

Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterization.

Monnot S, Giuliano F, Massol C, Fossoud C, Cossée M, Lambert JC, Karmous-Benailly H.

Am J Med Genet A. 2008 May 15;146A(10):1325-9. doi: 10.1002/ajmg.a.32238.

PMID:
18412111
16.

Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism.

Magenis E, Webb MJ, Spears B, Opitz JM.

Am J Med Genet. 1999 Dec 22;87(5):375-83.

PMID:
10594874
17.

Dandy-Walker malformation in a male fetus with mosaic 45,X/46,X,del(Y)(q11).

Witters I, Vandecruys H, Devlieger R, Fryns JP.

Genet Couns. 2008;19(4):439-41. No abstract available.

PMID:
19239090
18.

Determination of the sexual phenotype in a child with 45,X/46,X,Idic(Yp) mosaicism: importance of the relative proportion of the 45,X line in gonadal tissue.

Guedes AD, Bianco B, Lipay MV, Brunoni D, de Lourdes Chauffaille M, Verreschi IT.

Am J Med Genet A. 2006 Sep 1;140A(17):1871-5.

PMID:
16892409
19.

Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization.

Chen H, Tuck-Muller CM, Batista DA, Wertelecki W.

Am J Med Genet. 1995 Mar 27;56(2):219-33. Review.

PMID:
7625449
20.

Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations.

Gläser B, Shirneshan K, Bink K, Wirth J, Kehrer-Sawatzki H, Bartz U, Zoll B, Bohlander SK.

Am J Med Genet A. 2004 Apr 30;126A(3):229-36.

PMID:
15054834

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