A case of complete trisomy 2p/triploidy mosaicism

This report describes a newborn male infant with complete trisomy 2p in 80% and triploidy in 20% of cultured cells from peripheral blood. The boy was delivered by Caesarean section after 32 weeks of gestation because of signs of intrauterine asphyxia. The infant, who was utterly small for his gestational age, showed an aberrant motoric pattern and a high forehead, low-set ears, a prominent occiput and scoliosis, an extension defect in the knee joints and flexed, ulnar-deviated wrists. He had flexed thumbs, sandal gap bilaterally and syndactyly between toes III and IV bilaterally. Autopsy revealed multiple internal malformations.