Nucleotide-level resolution of a complex chromosomal rearrangement associated with cognitive disabilities reveals chromothripsis

• Author(s): Cardoso, M. ; Oliva-Teles, N. ; Tkachenko, N. ; Talkowski, M.E. ; Morton, C.C. ; Fortuna, A.M. ; David, D.
• Date: 2017
• Persistent ID: http://hdl.handle.net/10400.18/5492
• Origin: Repositório Científico do Instituto Nacional de Saúde
• Subject(s): Cognitive Disabilities; Chromothripsis; Complex Chromosomal Rearrangement; Nucleotide-level Resolution; Doenças Genéticas
• Document Type: Conference object
• Language: English
• Contributor(s): Repositório Científico do Instituto Nacional de Saúde

Description

Chromothripsis is an extreme form of complex chromosomal rearrangement (CCR), characterized by a localized shattering and random reassembly of genomic fragments. The aim of this study is the characterization at sequence-level resolution of a cytogenetically identified CCR 46,XY,t(7;14)(q21.13;q31),inv(15)(q21.2q26.1) associated with cognitive disabilities, and intrafamilial phenotype-genotype correlation analysis. Chromosomal alterations were mapped by large-insert whole genome sequencing (liWGS).