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Research topics
The constitutional cytogenetics laboratory, embedded within the clinical genetics unit of the university hospital, is responsible for the chromosome analysis for preimplantation, prenatal and postnatal diagnosis. Aberrant chromosome number and/or morphology are associated with miscarriages, congenital malformations, developmental disorders, mental retardation, behavioural problems and infertility. The identification of such chromosomal aberrations helps the diagnosis, determines the molecular cause of many disorders and helps family planning in affected families. Besides it’s routine diagnostic activities the laboratory is actively involved in research. The research activities focus on two areas. On the one hand, the laboratory is involved with the development of novel technologies in the area of chromosome analysis and genomics. On the other hand, in collaboration with the clinical geneticists, the laboratory actively seeks to define the molecular causes of developmental, mental and behavioural disturbances. To this end the laboratory takes advantage of the many chromosomal aberrations that are identified in patients and the advent of the human genome project. The international collaborative human genome project has provided us with the sequence of the human genome, the identification of the putative genes within our genome and with the tools to analyse this genome. Using these tools, we can readily analyse chromosomal aberrations at the molecular level and identify the genes causing the observed phenotypic aberrations.
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