Aspects pré- et post-nataux d'une trisomie partielle 2q3.7 de novo

We present a case of nuchal translucency during the first trimester of pregnancy with a normal karyotype on the trophoblast specimen. At the end of pregnancy, the head diameter was less than the 5th percentile but was considered as isolated (normal MRI). Dysmorphism developed postnatally. Complementary examinations, in particular high-resolution karyotype disclosed a rare chromosomal anomaly: duplication of chromosome 2qter. If the ultrasound surveillance is strictly normal in these cases of nuchal translucency, the genetic counseling can generally be favorable. There is however a risk in certain situations of nuchal translucency with a normal karyotype where the postnatal diagnosis discloses a chromosomal anomaly.