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Am J Med Genet. 2002 Jan 1;107(1):58-60.

Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1).

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1
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan. kuroken@ma3.justnet.ne.jp

Abstract

We describe a de novo balanced reciprocal translocation between the long arms of chromosomes 5 and 8 [46,XX,t(5;8)(q35;q24.1)] in a 15-month-old girl with a typical Sotos syndrome phenotype. Involvement of the 5q35 region was previously reported (Maroun et al. [1994: Am J Med Genet 50:291-293]) as one of translocation breakpoints in the present patient. We suggest that the gene responsible for Sotos syndrome is located to a distal long-arm region of chromosome 5.

PMID:
11807869
[Indexed for MEDLINE]
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