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Region Hovedstaden - en del af Københavns Universitetshospital
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Chromosomal abnormalities; cytogenetics; cytogenomics; pre- and postnatal diagnostics; genomic disorders; copy number variations; array-CGH; MLPA; FISH; PGD.

Primære forskningsområder

Chromosomal abnormalities

Aktuel forskning

Chromosomal imbalances detected in patients with intellectual disability, congenital malformations and dysmorphic features and fetuses with malformations are often unique or very rare. Thus, the clinical significance of the findings may remain uncertain, which complicates genetic counselling. We collaborate with Clinical Genetic Departments worldwide via DECIPHER in order to delineate new microdeletion and -duplication syndromes.

Chromosomal rearrangements can cause long-range position effects by deleting or displacing regulatory elements. In collaboration with the Wilhelm Johannsen Centre, University of Copenhagen, we map both balanced and unbalanced chromosomal rearrangements to identify regulatory genomic domains and elements for known and novel disease genes. Furthermore, a number of molecular cytogenetic projects are carried out to increase knowledge relevant for genetic counselling of families with e.g. inversions and insertions.

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