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Sotos syndrome and de novo balanced autosomal translocation (t(3;6)(p21;p21))

✍ Scribed by C. T. R. M. Schrander-Stumpel; J. P. Fryns; G. G. Hamers


Book ID
115090024
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
293 KB
Volume
37
Category
Article
ISSN
0009-9163

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Sotos syndrome associated with a de novo
✍ 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