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Items: 1 to 20 of 112

1.

Mosaicism for trisomy 21 and ring (21) in a male born to normal parents: a case report.

Samarth RM, Gandhi P, Pandey H, Maudar KK.

Gene. 2012 Dec 10;511(1):109-12. doi: 10.1016/j.gene.2012.09.035. Epub 2012 Sep 20.

PMID:
23000017
2.

[Down-Turner syndrome (45,X/47,XY,+21): case report and review].

Ryu SW, Lee G, Baik CS, Shim SH, Kim JT, Lee JS, Lee KA.

Korean J Lab Med. 2010 Apr;30(2):195-200. doi: 10.3343/kjlm.2010.30.2.195. Review. Korean.

3.

Concurrence of ring 21 and trisomy 21 in children of normal parents.

Cho YG, Park TW, Lee CS, Choi SI.

Yonsei Med J. 2005 Apr 30;46(2):284-8.

4.

Pseudo dicentric chromosome (5;21): a rare example of maternal germline mosaicism.

Engel U, Bohlander SK, Bink K, Hinney B, Laccone F, Bartels I.

Hum Reprod. 2001 Jan;16(1):63-66.

PMID:
11139538
5.

Mosaic trisomy of a small r(1) with an abnormal phenotype.

Dawson AJ, Konkin D, Riordan D, Chudley AE.

Am J Med Genet. 2001 Sep 15;103(1):32-5.

PMID:
11562931
6.

Double aneuploidy in three Egyptian patients: Down-Turner and Down-Klinefelter syndromes.

Zaki MS, Kamel AA, El-Ruby M.

Genet Couns. 2005;16(4):393-402.

PMID:
16440882
7.

Atypical Down syndrome phenotype in a girl with 21;21 translocation trisomy.

Tuysuz B, Yavuz A, Ozdil M, Caferler J, Ozon H.

Genet Couns. 2010;21(1):61-7.

PMID:
20420031
8.

Mosaic trisomy 21/monosomy 21 in a living female infant.

Nguyen HP, Riess A, Krüger M, Bauer P, Singer S, Schneider M, Enders H, Dufke A.

Cytogenet Genome Res. 2009;125(1):26-32. doi: 10.1159/000218745. Epub 2009 Jul 14.

PMID:
19617693
9.

Detection of mosaicism in lymphocytes of parents of free trisomy 21 offspring.

Frias S, Ramos S, Molina B, del Castillo V, Mayén DG.

Mutat Res. 2002 Sep 26;520(1-2):25-37.

PMID:
12297141
10.

Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism.

Faivre L, Viot G, Prieur M, Turleau C, Gosset P, Romana S, Munnich A, Vekemans M, Cormier-Daire V.

Am J Med Genet. 2000 Apr 10;91(4):273-6.

PMID:
10766982
11.

Sperm chromosome analysis of an infertile patient with a 95% mosaic r(21) karyotype and normal phenotype.

Hammoud I, Gomes DM, Bergere M, Wainer R, Selva J, Vialard F.

Fertil Steril. 2009 Mar;91(3):930.e13-5. doi: 10.1016/j.fertnstert.2008.12.005. Epub 2009 Jan 10.

PMID:
19135661
12.

Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21.

Keppler-Noreuil KM, Welch JL, Major HJ, Qiau Q, Jordan DK, Patil SR.

Dev Med Child Neurol. 2002 Jan;44(1):64-7.

13.

[Cytogenetic analysis and phenotype location analysis on the karyotype of a ring chromosome 21 syndrome].

Zhu XY, Zhao R, Ye ZC, Peng YG, Tan YQ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Dec;22(6):682-3. Chinese.

PMID:
16331572
16.

Transmission of ring chromosome 18 46,XX/46,XX,r(18) mosaicism in a mother and ring chromosome 18 syndrome in her son.

Fryns JP, Kleczkowska A, Smeets E, Van Den Berghe H.

Ann Genet. 1992;35(2):121-3.

PMID:
1524410
17.

Mosaicism in a patient with Down syndrome reveals post-fertilization formation of a Robertsonian translocation and isochromosome.

Bandyopadhyay R, McCaskill C, Knox-Du Bois C, Zhou Y, Berend SA, Bijlsma E, Shaffer LG.

Am J Med Genet A. 2003 Jan 15;116A(2):159-63.

PMID:
12494435
18.

Mosaic Down syndrome in a patient with low-level mosaicism detected by microarray.

Leon E, Zou YS, Milunsky JM.

Am J Med Genet A. 2010 Dec;152A(12):3154-6. doi: 10.1002/ajmg.a.33739.

PMID:
21108401
19.

Application of fluorescence in situ hybridization to the identification of different marker chromosomes.

Verschraegen-Spae MR, Quack B, Rousseaux S, Pison H, Messiaen L, De Paepe A, Lespinasse J.

Ann Genet. 1998;41(1):5-10.

PMID:
9599644
20.

Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome.

Sigurdardottir S, Goodman BK, Rutberg J, Thomas GH, Jabs EW, Geraghty MT.

Am J Med Genet. 1999 Dec 22;87(5):384-90.

PMID:
10594875

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