Browsing by Author "Cardoso, M."
Now showing 1 - 1 of 1
Results Per Page
Sort Options
- Nucleotide-level resolution of a complex chromosomal rearrangement associated with cognitive disabilities reveals chromothripsisPublication . Cardoso, M.; Oliva-Teles, N.; Tkachenko, N.; Talkowski, M.E.; Morton, C.C.; Fortuna, A.M.; David, D.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).