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A de novo translocation in a family with a balanced reciprocal chromosomal translocation

✍ Scribed by M. Priscilla Short; Fred Gilbert; Kurt Hirschhorn

Book ID
115089481
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
300 KB
Volume
29
Category
Article
ISSN
0009-9163

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Sotos syndrome associated with a de novo
Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1)
✍ Imaizumi, Kiyoshi ;Kimura, Junko ;Matsuo, Mari ;Kurosawa, Kenji ;Masuno, Mitsuo πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 99 KB πŸ‘ 3 views

## 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 50:2