De novo inverted duplication of chromosome 7(q21.3-->q35): cytogenetic diagnosis confirmed by FISH analysis.
We report on a newborn female patient with a de novo pure partial duplication of 7q. The clinical features are compared with those of 19 cases from the literature with pure partial duplication of different segments of 7q. Conventional cytogenetic investigation led to the diagnosis of duplication of bands q21.3 to q35. This was confirmed by chromosome painting and by fluorescence in situ hybridization with different YAC probes from the duplicated region.
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Institut für Humangenetik und Anthropologie der Universität, Breisacher Str. 33, D-79106 Freiburg, Germany. elkeback@humangenetik.ukl.uni-freiburg.de
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Fuchshuber
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D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D020732:Cytogenetic Analysis; D017809:Fatal Outcome; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant