Universiteit Leiden

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Research project

Genetic syndromes


Sophie van Rijn

In the search for determinants of risk and protective factors for problem behaviour unique insights can be obtained by studying genetic syndromes. In contrast to psychiatric conditions, which are diagnosed based on a collection of behavioral symptoms, genetic syndromes are defined based on a biological, genetic condition that is present already before birth.

Studying the impact of a genetic variation on cognitive, social, emotional and behavioral development, may help in understanding and identifying early markers of developmental risk and factors that mediate this risk. Our research projects in this area are currently focused on four target groups: 22q11 deletion syndrome, Phenylketonuria (PKU), Neurofibromatosis (NF) and X/Y chromosome trisomies (e.g. 47,XXY (Klinefelter syndrome), 47,XXX (Trisomy X), and 47,XYY).

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