Riegel Schinzel
Fakultäten » Medizinische Fakultät » Medizinische Genetik, Institut für » Prof. Dr. Albert Schinzel (emeritiert) » Riegel Schinzel
Completed research project
| Title / Titel | Investigations of subtelomeric microdeletions in families with a proband with multiple congenital anomalies reminiscent of chromosome aberrations, but normal banded karyotype | ||||||
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| Abstract (PDF, 14 KB) | |||||||
| Summary / Zusammenfassung | We initially investigated 100 such probands and their parents with subtelomeric FISH probes for the detection of microdeletions. The results were compared with those from a Belgian center which applied other selection criteria. The study was extended to more patients, with the result that, according to different selection criteria, further aberrations were detected. A first series has been published. The yield of abnormalities varies according to seletion criteria, on the average it is 5%. | ||||||
| Publications / Publikationen | Riegel M, Castellan C, Balmer D, Brecevic L, Schinzel A Terminal deletion, del(1)(p36.3) detected through screening for terminal deletions in patients with unclassified malformation syndromes Am J Med Genet 1999;82:249-253Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes Hum Genet 2001;109:286-294 |
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| Project leadership and contacts / Projektleitung und Kontakte |
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| Funding source(s) / Unterstützt durch |
SNF (Personen- und Projektförderung), Others |
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| In collaboration with / In Zusammenarbeit mit |
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| Duration of Project / Projektdauer | Jun 1996 to May 2006 |