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Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13.
Chen CP, Tsai CH, Chern SR, Wu PS, Su JW, Lee CC, Chen YT, Chen WL, Chen LF, Wang W. Chen CP, et al. Gene. 2013 Oct 15;529(1):163-8. doi: 10.1016/j.gene.2013.07.050. Epub 2013 Aug 8. Gene. 2013. PMID: 23933417
Interphase FISH on 100 uncultured amniocytes showed the ratio of r(13):-13:idic r(13) as 85%:13%:2%. The cord blood had a karyotype of 46,XY,r(13)[91]/46,XY,idic r(13)[6]/45,XY,-13[3]. The placenta had a karyotype of 46,XY,mar(1 …
Interphase FISH on 100 uncultured amniocytes showed the ratio of r(13):-13:idic r(13) as 85%:13%:2%. The cord bl …
Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.
Quelin C, Spaggiari E, Khung-Savatovsky S, Dupont C, Pasquier L, Loeuillet L, Jaillard S, Lucas J, Marcorelles P, Journel H, Pluquailec-Bilavarn K, Bazin A, Verloes A, Delezoide AL, Aboura A, Guimiot F. Quelin C, et al. Am J Med Genet A. 2014 Oct;164A(10):2504-9. doi: 10.1002/ajmg.a.36658. Epub 2014 Jun 26. Am J Med Genet A. 2014. PMID: 24975584
Inversion duplication and terminal deletion of the long arm of chromosome 13 (inv dup del 13q) is a rare chromosomal rearrangement: only five patients have been reported, mostly involving a ring chromosome 13. ...We compared the phenotypes of th …
Inversion duplication and terminal deletion of the long arm of chromosome 13 (inv dup del 13q) is a rare chromosomal rearrange …