Case down
A firstborn newborn female was noticed to have dysplastic folded ears, odd facies, small palpebral fissures, peculiar shape of mouth and nose, clinodactily, broad chest, and short neck. Her karyotype was 46, XX, −22+der(14)t(14;22) (q21;q11)mat. Her mother was a de novo balanced reciprocal translocation carrier. The infant was the product of the rather rare adjacent 2 form of segregation. Follow-up of the infant to the age of 19 months revealed severe mental retardation. The syndrome of proximal 14 trisomy can be suspected on clinical grounds in the newborn
