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Abstract
A 35-year-old woman with a cystic hygroma detected on early obstetrical ultrasound underwent chorionic villus sampling. Fetal chromosome analysis by standard GTG banding revealed a male karyotype with additional chromosome material of unknown origin attached to the short arm of a chromosome 9 (panel A). Multiplex fluorescence in-situ hybridisation (M-FISH), distinguishes all 24 human chromosomes in different colours with chromosome-specific paint probes. M-FISH showed that the additional material came from chromosome 2 (panel B).
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