Exciting advances in fluorescence in situ hybridization and array-based techniques are
changing the nature of cytogenetics, in both basic research and molecular diagnostics …

▪ Abstract Altering DNA copy number is one of the many ways that gene expression and
function may be modified. Some variations are found among normal individuals (,,), others …

We report four cases of subjects with phenotypic abnormalities and mental retardation
associated with apparently balanced translocations, two inherited and two de novo, which …

To test the hypothesis that translocation breakpoints in normal individuals are simple and do
not disrupt genes, we characterised the breakpoints in 13 phenotypically normal individuals …

Complex chromosome rearrangements (CCRs) are extremely rare but often associated with
mental retardation, congenital anomalies, or recurrent spontaneous abortions. We report a …

Using array CGH it is possible to detect very small genetic imbalances anywhere in the
genome. Its usefulness has been well documented in cancer and more recently in …

The human AF9/MLLT3 gene is a common fusion partner for the MLL gene in translocations
t (9; 11)(p22; q23) associated with acute myeloid leukemia and acute lymphocytic leukemia …

We have applied FISH with fully integrated BACs and BAC subfragments assessed in the
human genome sequence to a de novo t (7; 10)(q33; q23) translocation in a patient with …

Interstitial deletions of chromosome 15q, not involving the PWS/AS region, are uncommon
and poorly characterized. Few cases defined at the cytogenetic level have been reported …

Chips technology has allowed to miniaturize process making possible to realize in one step
and using the same device a lot of chemical reactions. The application of this technology to …