Partial trisomy 2 due to unbalanced transmission of a maternal translocation 2/15 in a child after IVF treatment

We report here on a child with chromosome based malformation syndrome of a couple after in vitro fertilization treatment (IVF). On the background of t his case we describe the importance of chromosome analysis of couples with reduced fertility. Identification of somatic infertility factors does not e xclude additional genetic risks. The wish to avoid the potential risks asso ciated with invasive methods of prenatal diagnosis should not lead to an ov erestimation of the sensitivity of ultrasound diagnosis of discrete fetal m alformations due to chromosomal syndromes.