Schinzel Riegel
Fakultäten » Medizinische Fakultät » Medizinische Genetik, Institut für » Prof. Dr. Albert Schinzel (emeritiert) » Schinzel Riegel
Completed research project
| Title / Titel | Investigations with molecular cytogenetic techniques of rare and unusual chromosome aberrations | ||||||
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| Abstract (PDF, 14 KB) | |||||||
| Summary / Zusammenfassung | The IMG constantly follows unusual chromosome aberration by applying new techniques, but also clinical follow-up. In the study year we investigated a patient with an unusual subtelomeric insertion from Germany, a patient with pseudo-monosomy 21 which turned out to be an unbalanced 18;21 translocation with deletions of segments from both chromosomes from Yugoslavia, a family with a very unusual X;21 translocation from Croatia, a highly unusual case of an insertion within with 2 homologues of one pair of chromosomes from Spain and 2 families with complex rearrangements from Brasil. In addition, we molecularly investigated 2 instances of false negative CVS results which turned out to be due to postmeiotic isochromosome formation. | ||||||
| Publications / Publikationen | Riegel M, Wisser J, Baumer A, Schinzel A. Postzygotic isochromosome formation as a cause for false negative results from chorionic villus chromosome examinations Prenat Diagn 2006;26:221-225Utermann B, Riegel M, Leistritz D, Karall T, Wisser J, Meisner L, Fauth C, Baldinger R, Johnson J, Erdel M, Taralczak M, Pauli RM, Baumer A, Schinzel A, Kotzot D Pre- and postnatal findings in trisomy 17 mosaicism Am J Med Genet 2006;140A:1628-1636Gadzicky D, Baumer A, Wey E, Happel CM, Rudolph C. Tönnies H, Neitzel H, Steinemann D, Welte K, Klein C, Schlegelberger B Jaconsen syndrome and Beckwith-Wiedemann syndrome cause by aparental pericentri inversion inv(11)(p15q24) Ann Hum Genet 2006;70:958-964Koolen DA, Vissers LELM, Pfundt R, de Leeuw N, .. Schinzel A, Baumer S, ..de Vries BBA A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism Nature Genet 2006;38:999-1001Tyshchenko N, Riegel M, Evseenkova EG, Zerova TE, Gorovenko NG, Schinzel A Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations Eur J Med Genet 2007;49:1-5 |
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| Project leadership and contacts / Projektleitung und Kontakte |
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| Funding source(s) / Unterstützt durch |
Universität Zürich (position pursuing an academic career), Others |
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| In collaboration with / In Zusammenarbeit mit |
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| Duration of Project / Projektdauer | Jan 2003 to Jan 2010 |