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Results: 1 to 20 of 219

1.

Inv21p12q22del21q22 and intellectual disability.

Oliveira R, Dória S, Madureira C, Lima V, Almeida C, Pinho MJ, Ramalho C, Matoso E, Barros A, Carreira IM, Moura CP.

Gene. 2013 Mar 15;517(1):120-4. doi: 10.1016/j.gene.2012.12.045. Epub 2012 Dec 20.

PMID:
23266646
[PubMed - indexed for MEDLINE]
2.

Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: detection by MLPA and breakpoint mapping by SNP array analysis.

Stevens SJ, Smeets EE, Blom E, van Uum CM, Albrechts JC, Herbergs J, Janssen JW, Engelen JJ.

Am J Med Genet A. 2009 Oct;149A(10):2226-30. doi: 10.1002/ajmg.a.32967.

PMID:
19725130
[PubMed - indexed for MEDLINE]
3.

Prenatal exclusion of segmental trisomy in familial chromosome 21 pericentric inversion by fluorescence in situ hybridization.

Tardy EP, Tóth A, Kosztolányi G.

Prenat Diagn. 1997 Sep;17(9):871-3.

PMID:
9316133
[PubMed - indexed for MEDLINE]
4.

Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients.

Szabó GP, Knegt AC, Ujfalusi A, Balogh E, Szabó T, Oláh É.

Am J Med Genet A. 2012 Apr;158A(4):869-76. doi: 10.1002/ajmg.a.35236. Epub 2012 Mar 9.

PMID:
22407767
[PubMed - indexed for MEDLINE]
5.

A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2-q22.1 with complex translocation t(8;20) in a family with intellectual disability.

Assawamakin A, Wattanasirichaigoon D, Tocharoentanaphol C, Waeteekul S, Tansatit M, Thongnoppakhun W, Limwongse C.

Am J Med Genet A. 2012 Apr;158A(4):901-8. doi: 10.1002/ajmg.a.35259. Epub 2012 Mar 14.

PMID:
22419381
[PubMed - indexed for MEDLINE]
6.

Chromosome segregation in an infertile man carrying a unique pericentric inversion, inv(21)(p12q22.3), analysed using fluorescence in situ hybridization on sperm nuclei: significance for clinical genetics. A case report.

Malan V, Pipiras E, Sifer C, Kanafani S, Cedrin-Durnerin I, Martin-Pont B, Hugues JN, Wolf JP, Benzacken B.

Hum Reprod. 2006 Aug;21(8):2052-6. Epub 2006 Apr 3.

PMID:
16585123
[PubMed - indexed for MEDLINE]
Free Article
7.

A Down syndrome female infant with partial trisomy of chromosome 21--abnormal nuchal translucency screening test.

Strah D, Veble A, Rudolf G, Writzl K, Gersak K.

Genet Couns. 2008;19(4):429-32.

PMID:
19239088
[PubMed - indexed for MEDLINE]
8.

Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH).

Witters I, Devriendt K, Legius E, Matthijs G, Van Schoubroeck D, Van Assche FA, Fryns JP.

Prenat Diagn. 2002 Jan;22(1):29-33.

PMID:
11810646
[PubMed - indexed for MEDLINE]
9.

Inverted duplication deletion of 8P: characterization by standard cytogenetic and SNP array analyses.

Sireteanu A, Braha E, Popescu R, Gramescu M, Gorduza EV, Rusu C.

Rev Med Chir Soc Med Nat Iasi. 2013 Jul-Sep;117(3):731-4.

PMID:
24502041
[PubMed - indexed for MEDLINE]
10.

Familial transmission of a deletion of chromosome 21 derived from a translocation between chromosome 21 and an inverted chromosome 22.

Aviv H, Lieber C, Yenamandra A, Desposito F.

Am J Med Genet. 1997 Jun 27;70(4):399-403.

PMID:
9182781
[PubMed - indexed for MEDLINE]
11.

A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q13-->q24.1 and partial monosomy 4q27-->q28 [corrected].

Grasshoff U, Singer S, Liehr T, Starke H, Fode B, Schöning M, Dufke A.

Cytogenet Genome Res. 2003;103(1-2):17-23. Erratum in: Cytogenet Genome Res. 2004;105(1):160.

PMID:
15004458
[PubMed - indexed for MEDLINE]
12.

A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.

Bonaglia MC, Giorda R, Massagli A, Galluzzi R, Ciccone R, Zuffardi O.

Eur J Hum Genet. 2009 Feb;17(2):179-86. doi: 10.1038/ejhg.2008.160. Epub 2008 Sep 24.

PMID:
18813332
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 --> qter.

Tchirikov M, Merinsky A, Strohner M, Bonin M, Beyer V, Haaf T, Bartsch O.

Am J Med Genet A. 2010 Mar;152A(3):721-5. doi: 10.1002/ajmg.a.33238.

PMID:
20186810
[PubMed - indexed for MEDLINE]
14.

Prenatal detection by subtelomeric FISH and MLPA of unbalanced meiotic recombinants resulting from parental pericentric inversions.

Grati FR, Chinetti S, Malgara R, Rognoni G, Grimi B, De Toffol S, Milani S, Dulcetti F, Frascoli G, Di Meco AM, Liuti R, Trotta A, Coffa J, Maggi F, Simoni G.

Mol Cell Probes. 2008 Oct-Dec;22(5-6):316-9. doi: 10.1016/j.mcp.2008.06.004. Epub 2008 Jul 8.

PMID:
18657607
[PubMed - indexed for MEDLINE]
15.
16.

Recombinant Down syndrome: a case report and literature review.

Lazzaro SJ, Speevak MD, Farrell SA.

Clin Genet. 2001 Feb;59(2):128-30. Review.

PMID:
11260215
[PubMed - indexed for MEDLINE]
17.

Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter).

Chen CP, Chern SR, Lin CC, Wang TH, Li YC, Hsieh LJ, Lee CC, Hua HM, Wang W.

Prenat Diagn. 2006 Apr;26(4):313-20. Review.

PMID:
16506269
[PubMed - indexed for MEDLINE]
18.

Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.

Schluth-Bolard C, Till M, Rafat A, Labalme A, Le Lorc'h M, Banquart E, Angei C, Cordier MP, Romana SP, Edery P, Sanlaville D.

Eur J Med Genet. 2008 Nov-Dec;51(6):622-30. doi: 10.1016/j.ejmg.2008.06.009. Epub 2008 Jul 12.

PMID:
18674648
[PubMed - indexed for MEDLINE]
19.

Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter.

Tirado CA, Henderson S, Uddin N, Stewart E, Iyer S, Ratner IM, Matthews E, Doolittle J, Garcia R, Valdez F, Dallaire S, Appleberry T, Payne D, Collins R.

Am J Med Genet A. 2009 Nov;149A(11):2507-12. doi: 10.1002/ajmg.a.33080. Erratum in: Am J Med Genet A. 2010 Jan;152A(2):537.

PMID:
19876903
[PubMed - indexed for MEDLINE]
20.

A de novo duplication of chromosome 21q22.11→qter associated with Down syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings.

Chen CP, Huang HK, Ling PY, Su YN, Chen M, Tsai FJ, Wu PC, Chern SR, Chen YT, Lee CC, Wang W.

Taiwan J Obstet Gynecol. 2011 Dec;50(4):492-8. doi: 10.1016/j.tjog.2011.10.016.

PMID:
22212323
[PubMed - indexed for MEDLINE]

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