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De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder

✍ Scribed by Kroisel, Peter M. ;Windpassinger, Christian ;Wagner, Klaus ;Petek, Erwin ;Vincent, John B. ;Scherer, Stephen W. ;Spiel, Georg ;Artner, Vida ;Valtiner, Erich


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
104 KB
Volume
129A
Category
Article
ISSN
0148-7299

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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‘ 2 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