2 documents found, page 1 of 1
Nucleotide-level resolution of a complex chromosomal rearrangement associated w...
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 analys...
Disruption of WDR26 by a translocation breakpoint confirms its causal role in S...
Freixo, J.P.; Marques, M.; Fino, J.; Carvalho, I.; Talkowski, M.E.; Morton, C.; David, D.Introduction: Microdeletions or contiguous gene syndromes are characterized by variable complex clinical phenotypes caused by hemizygosity of contiguous genes, defined mainly by a common deletion region, or of a major causal gene locus. Delineation of the pathogenic genes within these CGS regions is a major challenge. Identification of breakpoints at nucleotide resolution of balanced chromosomal rearrangements ...