The application of region-specific probes for the resolution of duplication 8p: a case report and a review of the literature.
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.
Institute of Human Genetics, Hannover Medical University, Hannover, Germany. pabst.b@mh-hannover.de
B
B
Pabst
M
M
Arslan-Kirchner
J
J
Schmidtke
K
K
Miller
D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D007446:Chromosome Inversion; D020223:Chromosome Painting; D018244:Chromosomes, Artificial, Yeast; D002898:Chromosomes, Human, Pair 8 / Q000648:ultrastructure; D015342:DNA Probes; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008677:Metaphase; D013577:Syndrome
D015342:DNA Probes