Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Petek, E; Köstl, G; Mutz, I; Wagner, K; Kroisel, PM.
Characterization of a de novo partial trisomy 22q13-qter in a patient by microFISH.
Clin Dysmorphol. 2000; 9(1):55-57
Doi: 10.1097/00019605-200009010-00011
(- Case Report)
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- Führende Autor*innen der Med Uni Graz
- Petek Erwin
- Co-Autor*innen der Med Uni Graz
- Kroisel Peter
- Wagner Klaus
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- Abstract:
- Chromosomal microdissection and subsequent application of the generated probe for FISH (microFISH) allowed the characterization of a small extra band found by routine cytogenetic analysis on the short arm of chromosome 19 in a mentally retarded boy with various dysmorphic features. There is no cytogenetically visible loss of chromosome 19 material as verified by hybridization results using a subtelomeric probe for this region and therefore all anomalies found in the patient are most likely due to the partial trisomy of 22q13-qter. The approach used in this study should be generally applicable in comparable cases and allows a fast and straightforward identification of the origin of extra chromosomal material, which otherwise is very laborious or difficult to characterize. Clinical features of this 9-year-old patient such as mental and motor retardation, microcephaly, microphthalmia and hypogenitalism are compared with other cases showing this rare chromosomal aberration.
- Find related publications in this database (using NLM MeSH Indexing)
- Abnormalities, Multiple - genetics
- Child, Preschool - genetics
- Chromosome Banding - genetics
- Chromosomes, Human, Pair 22 - genetics
- Humans - genetics
- In Situ Hybridization, Fluorescence - methods
- Karyotyping - methods
- Male - methods
- Polymerase Chain Reaction - methods
- Trisomy - methods
- Find related publications in this database (Keywords)
- chromosome microdissection
- fluorescence in situ hybridization (FISH)
- microcephaly
- trisomy 22q13-qter