Chromosomal rearrangement interferes with meiotic X chromosome inactivation [PDF]
Heterozygosity for certain mouse and human chromosomal rearrangements is characterized by the incomplete meiotic synapsis of rearranged chromosomes, by their colocalization with the XY body in primary spermatocytes, and by male-limited sterility. Previously, we argued that such X–autosomal associations could interfere with meiotic sex chromosome ...
David, Homolka +4 more
openaire +2 more sources
A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones [PDF]
The identification of marker chromosomes in clinical and tumor cytogenetics by chromosome banding analysis can create problems. In this study, we present a strategy to define minute chromosomal rearrangements by multicolor fluorescence in situ ...
A Kallioniemi +31 more
core +1 more source
Chromosomal rearrangements, such as translocations, deletions, and inversions, underlie numerous genetic diseases and cancers, yet precise engineering of these rearrangements remains challenging.
Mingyao Wang +6 more
doaj +1 more source
Chromoanagenesis: cataclysms behind complex chromosomal rearrangements
Background During the last decade, genome sequencing projects in cancer genomes as well as in patients with congenital diseases and healthy individuals have led to the identification of new types of massive chromosomal rearrangements arising during ...
Franck Pellestor
doaj +1 more source
Tracing cancer evolution and heterogeneity using Hi-C
Chromosomal rearrangements can initiate and drive cancer progression, yet it has been challenging to evaluate their impact, especially in genetically heterogeneous solid cancers.
Dan Daniel Erdmann-Pham +10 more
doaj +1 more source
Detection of t(7;12)(q36;p13) in paediatric leukaemia using dual colour fluorescence in situ hybridisation [PDF]
The identification of chromosomal rearrangements is of utmost importance for the diagnosis and classification of specific leukaemia subtypes and therefore has an impact on therapy choices in individual cases.
Federico, C +4 more
core +2 more sources
A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes
Complex chromosomal rearrangements (CCR) are rare chromosomal structural abnormalities. The chromosomal structural variants in CCR carriers are one of the factors contributing to a history of adverse pregnancy and childbirth.
Yan Luo +5 more
doaj +1 more source
Comparative chromosome band mapping in primates byin situ suppression hybridization of band specific DNA microlibraries [PDF]
A DNA-library established from microdissected bands 8q23 to 8q24.1 of normal human chromosomes 8 (Lüdecke et al., 1989) was used as a probe for chromosomal in situ suppression (CISS-) hybridization to metaphase chromosomes of man and primates including ...
A. Jauch +20 more
core +1 more source
Three-dimensional genome architecture influences partner selection for chromosomal translocations in human disease. [PDF]
Chromosomal translocations are frequent features of cancer genomes that contribute to disease progression. These rearrangements result from formation and illegitimate repair of DNA double-strand breaks (DSBs), a process that requires spatial ...
Jesse M Engreitz +2 more
doaj +1 more source
Genetic Requirements for Intra-Chromosomal Deletions [PDF]
Chromosomal deletions are one of the most dangerous types of DNA damage and often arise as a result of inappropriately repaired DNA double strand breaks (DSB).
McPherson, Matthew
core

