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J Med Genet. Apr 1990; 27(4): 258–260.
PMCID: PMC1017030

Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.

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.

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