[Some images in this article are no longer available]
Case report
The following images show a case of Pallister-Killian syndrome, tetrasomy 12p, mosaic. Patient was healthy G2P1. First trimester ultrasound screening didn't show any abnormalities, NT=1 mm. During the ultrasound examination at 22 weeks, we have seen the following findings:
-
Prefrontal edema
-
Coarse facial features
-
Shortened extremities
Parents were councelled and decided for amniocentesis. It was performed at 31 weeks of gestation. The results showed mosaic of tetrasomy 12p but only in one cell clone. After consulting a cytogeneticist, we decided to repeat the amniocentesis to confirm our previous results. The results of the second amniocentesis confirmed tetrasomy 12p.
Patient delivered preterm, at 35 weeks of gestation. Postnatal findings confirmed the coarse facial features. There were no other abnormalities on the clinical examination.
Images 4,5: Images show a nasal bone with normal measurement and prefrontal edema.