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Case Reports
. 1990 Apr;27(4):258-60.
doi: 10.1136/jmg.27.4.258.

Rothmund-Thomson syndrome associated with trisomy 8 mosaicism

K L Ying  1 , J Oizumi, C J Curry
Affiliations
Case Reports

Rothmund-Thomson syndrome associated with trisomy 8 mosaicism

K L Ying et al. J Med Genet. 1990 Apr.

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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References

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