The origin of a morphologically unidentifiable human supernumerary minichromosome traced through sorting, molecular cloning, and in situ hybridisation.
- 1 February 1991
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 28 (2) , 92-96
- https://doi.org/10.1136/jmg.28.2.92
Abstract
A supernumerary minichromosome has been detected in a severely malformed patient. Attempts at identifying the marker by conventional approaches were unsuccessful. The physical isolation of the minichromosome by fluorescence activated sorting, molecular cloning of its DNA, and in situ hybridisation experiments performed with single copy DNA probes allowed us to show that it was derived from a rearrangement involving the centromere and the proximal region of the short arm of chromosome 9.Keywords
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