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

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

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/or monosom...

Full description

Bibliographic Details
Main Authors: Frenny Sheth, Thomas Liehr, Viraj Shah, Hillary Shah, Stuti Tewari, Dhaval Solanki, Sunil Trivedi, Jayesh Sheth
Format: Article
Language:English
Published: BMC 2018-10-01
Series:Italian Journal of Pediatrics
Subjects:
Molecular karyotyping
Molecular cytogenetics
Haploinsufficiency
Ring chromosome
R(6)
Online Access:http://link.springer.com/article/10.1186/s13052-018-0571-0

Internet

http://link.springer.com/article/10.1186/s13052-018-0571-0

Similar Items