Objectives: To add to the knowledge of chromosomal abnormalities associated with Dandy-Walker malformation.
Methods: Molecular cytogenetic analyses of a chorionic villus sampling and of an amniocentesis of a fetus with Dandy-Walker malformation and abnormal somatic development.
Results: All cells examined showed a 47, XY, +idic(9p)(pter-->q12::q12-->pter) de novo karyotype. This report describes the fourth case of a tetrasomy 9p associated with Dandy-Walker malformation.
Conclusions: This case, together with the three previously reported cases of an association with a tetrasomy 9p, indicate that this chromosomal aberration should be looked for when Dandy-Walker malformation is detected via prenatal ultrasonography.
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