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

• Hoofdauteurs: Frenny Sheth (Auteur), Thomas Liehr (Auteur), Viraj Shah (Auteur), Hillary Shah (Auteur), Stuti Tewari (Auteur), Dhaval Solanki (Auteur), Sunil Trivedi (Auteur), Jayesh Sheth (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2018-10-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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/...