title: Characterization of a de novo partial trisomy 22q13-qter in a patient by microFISH.
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.
authors.affiliation: Institute of Medical Biology and Human Genetics, University of Graz, Austria. petek@kfunigraz.ac.at
authors.forename: E
authors.initials: E
authors.lastname: Petek
authors.forename: G
authors.initials: G
authors.lastname: Köstl
authors.forename: I
authors.initials: I
authors.lastname: Mutz
authors.forename: K
authors.initials: K
authors.lastname: Wagner
authors.forename: P M
authors.initials: PM
authors.lastname: Kroisel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002871:Chromosome Banding; D002892:Chromosomes, Human, Pair 22; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007621:Karyotyping; D008297:Male; D016133:Polymerase Chain Reaction; D014314:Trisomy