Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3).
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.
Tommerup
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N
Department of Medical Genetics, Ullevaal Hospital, Oslo, Norway.
van der Hagen
C B
CB
Heiberg
A
A
D002648:Child; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D008297:Male; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics*; D014178:Translocation, Genetic