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

• Main Authors: Frenny Sheth (Author), Thomas Liehr (Author), Viraj Shah (Author), Hillary Shah (Author), Stuti Tewari (Author), Dhaval Solanki (Author), Sunil Trivedi (Author), Jayesh Sheth (Author)
• Format: Knjiga
• Izdano: BMC, 2018-10-01T00:00:00Z.
• Teme: article
• Online dostop: 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/...