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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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Leading authors Med Uni Graz: Petek Erwin
Co-authors 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