Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.
- 1 April 1990
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 27 (4), 258-260
- https://doi.org/10.1136/jmg.27.4.258
Abstract
This report describes a boy with Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. The patient presented with typical features of Rothmund-Thomson syndrome but some of the features often seen in trisomy 8 mosaics were also observed in him. The possibility that the two disorders might share a common pathogenesis is postulated.Keywords
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