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Updated: Sep 11, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 24, 2011
Characterization of a chromosome 8-derived minute marker chromosome using microdissection and FISH in a boy with
J J M Engelen1, C T R M Schrander-Stumpel, P M V M Theunissen
1Research Institute Growth and Development, Department of Clinical Genetics, University Maastricht, The Netherlands. john.engelen@gen.unimaas.nl
Abstract:
In a 9-year-old boy referred because of growth retardation, chromosome analysis showed the presence of a minute marker chromosome in 75% of the metaphases examined. The application of microdissection in combination with fluorescence in situ hybridization demonstrated that the marker was derived from the centromere region of chromosome 8, the karyotype being: mos 47,XY,+mar.ish der(8)(D8Z1+)[75]/46,XY[25]. The clinical and cytogenetical findings are compared with cases previously reported in the literature.
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