The application of region-specific probes for the resolution of duplication 8p: a case report and a review of the literature

Publisher: Karger

E-ISSN: 1424-859x|103|1-2|3-7

ISSN: 1424-8581

Source: Cytogenetic and Genome Research, Vol.103, Iss.1-2, 2004-03, pp. : 3-7

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Abstract

The structural rearrangement in the short arm of a chromosome 8 in a clinically affected patient has been reinvestigated by FISH using whole chromosome painting and region specific YAC probes. An inverted duplication of the segment p22→p11.2 and a deletion of the subtelomeric region were demonstrated. By this approach, a more detailed resolution of the duplication/deletion 8p was possible. With the application of molecular cytogenetic methods the existence of different duplication segments within the clinical entity of duplication/deficiency 8p can be shown.