A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature

• Principais autores: Frenny Sheth (Autor), Thomas Liehr (Autor), Viraj Shah (Autor), Hillary Shah (Autor), Stuti Tewari (Autor), Dhaval Solanki (Autor), Sunil Trivedi (Autor), Jayesh Sheth (Autor)
• Formato: Livro
• Publicado em: BMC, 2018-10-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Ring chromosome 6 (r(6)) is a rare disorder that mainly occurs as a 'de novo' event. Nonetheless, a wide phenotypic spectrum has been reported in r(6) cases, depending on breakpoints, size of involved region, copy number alterations and mosaicism of cells with r(6) and/...