A patient with extreme variation in number and size of small marker chromosomes
- 1 February 1987
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 75 (2) , 191-194
- https://doi.org/10.1007/bf00591086
Abstract
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.Keywords
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