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Am J Med Genet. 1992 Sep 15;44(2):237-41.

Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3).

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  • 1Department of Medical Genetics, Ullevaal Hospital, Oslo, Norway.


During a systematic chromosomal survey of 7 unrelated patients with Rubinstein-Taybi syndrome, an apparently balanced de novo reciprocal translocation, t(7;16)(q34;p13.3), was detected in an affected boy. The involvement of the region 16p13.3 coincides with the position of one of the breakpoints in another de novo reciprocal translocation associated with Rubinstein-Taybi syndrome, suggesting that a locus for this syndrome maps to 16p13.3.

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