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Schinzel

Fakultäten » Medizinische Fakultät » Medizinische Genetik, Institut für » Prof. Dr. Albert Schinzel (emeritiert) » Schinzel

Completed research project

Title / Titel Trisomy 16p
PDF Abstract (PDF, 14 KB)
Summary / Zusammenfassung The oldest known patient with full trisomy 16p was followed through more than 20 years at our institute which gave us the unique opportunity to follow the motor and mental development in such a rare chromosome aberration. We are presently preparing a report with clinical, cytogenetic, moelcular and developmental data.
Publications / Publikationen Rochat MK, Riegel M, Schinzel A
Long-term follow-up of a 26-year-old male with duplication of 16p: clinical report and review
aM j mEDgENET 2007;143a:399-408
Project leadership and contacts /
Projektleitung und Kontakte
Albert Schinzel (Project Leader) schinzel@medgen.uzh.ch
Mascha Rochat rochat@medgen.uzh.ch
Funding source(s) /
Unterstützt durch
Forschungskredit der Universität Zürich, Others
 
Duration of Project / Projektdauer Nov 2003 to Dec 2005