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

✍ Scribed by Imaizumi, Kiyoshi ;Kimura, Junko ;Matsuo, Mari ;Kurosawa, Kenji ;Masuno, Mitsuo ;Niikawa, Norio ;Kuroki, Yoshikazu

• Publisher: John Wiley and Sons
• Year: 2002
• Tongue: English
• Weight: 99 KB
• Volume: 107
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.10080

✦ Synopsis

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. © 2001 Wiley‐Liss, Inc.