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...
Clinical, cytogenetic and molecular findings of a “de novo” inv dup del (6q)
Fonseca Silva, M.L.; Mota Freitas, M.; Candeias, C.; Ribeiro, J.; Oliva Teles, N.; Soares, G.; Tkachenko, N.; Marques, B.; Correia, H.Introduction: Complex rearrangements resulting in inverted duplications contiguous to a terminal deletion (inv dup del) were first reported for the short arm of chromosome 8 in1976. Since then this type of structural anomaly has been described for an increasing number of chromosomes. In these rearrangements, the concomitant presence of a deletion and a duplication has important consequences in genotype-phenotyp...