We describe a patient with a de novo chromosomal aberration with karyotype 46,XY,10q+, presenting clinical features of partial duplication of distal chromosome 10q. Further studies using microsatellites and FISH showed a triplication of distal chromosome 10q. The rearrangement involved both maternal homologues and the middle chromosomal 10q fragment of the triplication was inverted, similar to ...

Complex chromosome translocations involve changes between three or more chromosomes and are found very rarely in the general population. 2 Abnormal phenotype, mental retardation, recurrent miscarriages, and infertility have been reported in carriers of apparently balanced complex chromosomal rearrangements. Phenotypic abnormalities in patients with apparently balanced chromosomal translocation ...

Large-scale genome sequencing is providing a comprehensive view of the complex evolutionary forces that have shaped the structure of eukaryotic chromosomes. Comparative sequence analyses reveal patterns of apparently random rearrangement interspersed with regions of extraordinarily rapid, localized genome evolution. Numerous subtle rearrangements near centromeres, telomeres, duplications, and i...

The soybean variety Forrest contains an aberrant allele for the Gy3 glycinin gene. The aberrant allele is designated gy3 because mRNA for the G3 glycinin subunit is reduced to below detectable amounts in the seed. Molecular and genetic characterization of gy3 show it to be associated with a chromosomal rearrangement that causes the 5' halves and 3' halves of the gene to become separated from on...

We present and demonstrate a multi-criteria approach for evaluating R&D projects in different stages of their life cycle. Our approach integrates the balanced scorecard (BSC) and data envelopment analysis (DEA) and develops an extended DEA model. The input and output measures for the integrated DEA–BSC model are grouped in “cards” which are associated with a “BSC for R&D projects”. The BSC is e...

chromosomal abnormalities are major causes of infertility, miscarriage and birth of handicapped progeny. in human live births, the prevalence of a chromosome aberration is ?0.5% and, of these, 0.1–0.3% correspond to structural chromosome rearrangements such as translocations, inversions, insertions and deletions .our proband is an infant who had died 4 hours after birth due to a variety of abno...