Characterization of a de novo partial trisomy 22q13-qter in a patient by microFISH

• Published in: Clinical dysmorphology Vol. 9; no. 1; p. 55
• Main Authors: Petek, E, Köstl, G, Mutz, I, Wagner, K, Kroisel, P M
• Format: Journal Article
• Language: English
• Published: England 01.01.2000
• Subjects: Abnormalities, Multiple - genetics; Child, Preschool; Chromosome Banding; Chromosomes, Human, Pair 22; Humans; In Situ Hybridization, Fluorescence - methods; Karyotyping; Male; Polymerase Chain Reaction; Trisomy
• DOI: 10.1097/00019605-200009010-00011
• ISSN: 0962-8827

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.