[ Post a Response | 22q Deletion Interest Board ]
Posted by Gabor Varga Clin Dysmorphol. 2000 Jan;9(1):55-7. Related Articles, Links Petek E, Kostl G, Mutz I, Wagner K, Kroisel PM. Institute of Medical Biology and Human Genetics, University of Graz, Austria. petek@kfunigraz.ac.at 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. Publication Types: PMID: 10649799 [PubMed - indexed for MEDLINE]
on 1/1/2006, 1:44 pm, in reply to "22q duplication"
62.246.33.79
Do you mean trisomy?
Characterization of a de novo partial trisomy 22q13-qter in a patient by microFISH.
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