Abstract Study question To evaluate diagnosis value of optical genome mapping (OGM) for potential preimplantation genetic testing in chromosomal structural rearrangement (PGT-SR) patients with cryptic rearrangement. Summary answer OGM is an efficient method detection. However, SVs near telomere and centromere regions could hardly be reported this method. What known already About 5∼10% infertili...

In this study we characterized the extension, reciprocal arrangement, and orientation of syntenic chromosomal segments in the lar gibbon (Hylobates lar, HLA) by hybridization of a panel of approximately 1000 human BAC clones. Each lar gibbon rearrangement was defined by a splitting BAC clone or by two overlapping clones flanking the breakpoint. A reconstruction of the synteny arrangement of the...

Thyroid adenomas are common benign human tumors with a high prevalence of about 5% of the adult population even in iodine sufficient areas. Rearrangements of chromosomal band 19q13.4 represent a frequent clonal cytogenetic deviation in these tumors making them the most frequent non-random chromosomal translocations in human epithelial tumors at all. Two microRNA (miRNA) gene clusters i.e. C19MC...

SoRT(2) is a web server that allows the user to perform genome rearrangement analysis involving reversals, generalized transpositions and translocations (including fusions and fissions), and infer phylogenetic trees of genomes being considered based on their pairwise genome rearrangement distances. It takes as input two or more linear/circular multi-chromosomal gene (or synteny block) orders in...

A significant number of prostate cancers have been shown to have recurrent chromosomal rearrangements resulting in the fusion of the androgen-regulated TMPRSS2 promoter to a member of the ETS transcription factor family, most commonly ERG. This results in ERG overexpression, which may have a direct causal role in prostate tumorigenesis or progression. However, the clinical significance of the r...

LS ROS1 is a receptor tyrosine kinase of the insulin receptor family. Chromosomal rearrangement is the primary mechanism that activates ROS1 in lung cancer and other cancers, and a number of ROS1 rearrangements can occur in nonsquamous lung cancer. These rearrangements lead to aberrant expression of ROS1 and constitutive activation of its tyrosine kinase. Signaling downstream of ROS1 fusions re...

A first case of polymorphism of a pericentric inversion on X-chromosome was detected in six wild populations of Drosophila willistoni from islands and the mainland of Santa Catarina State, southern Brazil. The high representativeness of this inversion, with frequencies between 10 to 42 % in samples of wild populations from Santa Catarina State, suggests that it could be adaptive and that the es...

BACKGROUND Progression of chronic myelogenous leukemia (CML) is frequently accompanied by cytogenetic evolution, commonly unbalanced chromosomal changes, such as an extra copy of Philadelphia chromosome (Ph), +8, and i(17)(q10). Balanced chromosomal translocations typically found in de novo acute myeloid leukemia occur occasionally in CML, such as inv(3)/t(3;3), t(8;21), t(15;17), and inv(16). ...

HE extensive phenotypic variation among individuals exhibiting positionTeff ect variegation has long hampered investigations of the mechanism of position effect. The variegated phenotype itself is associated with loci near the breakage points of chromosomal rearrangements. The genes subject to position effect are not mutant in the strict sense, at least in the germ line, since they can be recov...