Cardoso, M.Oliva-Teles, N.Tkachenko, N.Talkowski, M.E.Morton, C.C.Fortuna, A.M.David, D.2018-03-292018-03-292017-11http://hdl.handle.net/10400.18/5492Chromothripsis 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).engCognitive DisabilitiesChromothripsisComplex Chromosomal RearrangementNucleotide-level ResolutionDoenças Genéticasconference object