Summary
We describe extensive variation in the morphology and number of small marker chromosomes in a young girl whose most significant clinical findigns were pulmonic stenosis, neek webbing, proptosis, camptodactyly, and developmental delay. Many of the markers had a ring structure. Some were clearly rod-shaped chromosomes with varying arm ratios and others were so small that we could not determine their structure.
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Mascarello, J.T., Jones, M.C. & Chambers, S.R. A patient with extreme variation in number and size of small marker chromosomes. Hum Genet 75, 191–194 (1987). https://doi.org/10.1007/BF00591086
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DOI: https://doi.org/10.1007/BF00591086