PMID: 8986275Jan 10, 1997Paper

Mosaic partial trisomy 17 due to a ring chromosome identified by fluorescence in situ hybridisation

American Journal of Medical Genetics
P J MorrisonI D Young

Abstract

We report on a 3-year-old-girl with mosaic partial trisomy 17 due to an additional ring chromosome 17 in 13% of cells analysed. This was identified by fluorescence in situ hybridisation (FISH) using a whole chromosome 17 specific paint as well as probes specific for the Smith-Magenis and Miller-Dieker regions of chromosome 17p. This girl showed mild developmental delay with subtle facial and other minor abnormalities including single palmar creases, generalised joint laxity, and a scoliosis.

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