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chromosome embryo patient probe analysis deletion result abnormality study mosaicism chromosomal mosaic genet sample array diagnosis trisomy cytogenetic signal stimulation table syndrome pregnancy number karyotype 11.2 netherland anomaly region group preimplantation aneuploidy marker parent hybridization probe signals mosaic embryos control chromosomal mosaicism incidence reprod diagn genetic prenat genomic signi oocyte nuclei fish analysis blastocyst screening technique stage round karyotyping van opstal detection erasmus university rotterdam trisomy 17 mosaicism blastomere development figure baart phenotype report ultrasound fetus outcome genomic hybridization feature chromosomal anomalies value culture proportion duplication clone preimplantation embryos opstal department mother
10 Most Recent Publications
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Another rare prenatal case of post-zygotic mosaic trisomy 17
(Article)
Vries, F.A. de Govaerts, L.C. Knijnenburg, J. Knapen, M.F.C.M. Oudesluijs, G.G. Lont, D. Noomen, P. Graaff, K. Srebniak, M. Opstal, D. van |
2013-03-22
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Phenotypic variability of atypical 22q11.2 deletions not including TBX1
(Article)
Verhagen, J.M.A. Diderich, K. Srebniak, M. Opstal, D. van Hulsman, L.O. Zutven, L.J.C.M. van Wessels, M.W. Oudesluijs, G.G. Mancini, G.M.S. Eggink, A.J. Verkleij-Hagoort , A.C. Groenenberg, I.A.L. Willems, P.J. Du Plessis, F. Man, S.A. de |
2012-10-01
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Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect
(Article)
Srebniak, M. Boter, M. Verboven-Peerden, C.M.A. Looye-Bruinsma, G.A.G. Oudesluijs, G.G. Galjaard, R.-J.H. Opstal, D. van |
2011-12-05
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Application of SNP array for rapid prenatal diagnosis: Implementation, genetic counselling and diagnostic flow
(Article)
Srebniak, M. Boter, M. Oudesluijs, G.G. Joosten, M. Govaerts, L.C. Opstal, D. van Galjaard, R-J.H. |
2011-12-01
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Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis
(Article)
Opstal, D. van Boter, M. Noomen, P. Srebniak, M. Hamers, G. Galjaard, R-J.H. |
2011-01-18
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The fate of the mosaic embryo: Chromosomal constitution and development of Day 4, 5 and 8 human embryos
(Article)
Santos, M.A. Teklenburg, G. Macklon, N.S. Opstal, D. van Schuring-Blom, G.H. Krijtenburg, P.J. Vreeden-Elbertse, J. de Fauser, B.C.J.M. Baart, E.B. |
2010-08-01
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The use of comparative genomic hybridization and fluorescent in situ hybridization in postmortem pathology investigation of congenital malformations
(Article)
Goemaere, N.N.T. Douben, H. Opstal, D. van Wouters, C. Tibboel, D. Krijger, R.R. de Klein, J.E.M.M. de |
2010-03-01
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Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review
(Article)
Zutven, L.J.C.M. van Bever, Y. van Nieuwland, C.C.M. van Huijbregts, G.C.M. Opstal, D. van Bergh, A.R.M. von Corel, L.J.A. Tibboel, D. Wouters, C.H. Poddighe, P. |
2009-07-01
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Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: A prospective study of 4000 amniotic fluid samples
(Article)
Opstal, D. van Boter, M. Jong, D. de Berg, C.D.F. van den Brüggenwirth, H.T. Wildschut, H.I.J. Klein, J.E.M.M. de Galjaard, R-J.H. |
2009-01-01
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An incomplete trisomy 3 rescue resulting in a marker chromosome and UPD(3) - Difficulties in interpretation
(Article)
Srebniak, M. Noomen, P. Dos Santos, P. Halley, D. Graaf, R. van de Govaerts, L.C. Wouters, C.H. Galjaard, R-J.H. Opstal, D. van |
2008-10-01
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