The fetal phenotype of partial trisomy of the long arm of chromosome 4 (4q22----4qter).

A slightly malformed female fetus with partial trisomy 4q due to a maternal balanced translocation t(1;4)(q44;q22) is reported. This fetus presented some of the typical facial features and internal malformations associated with pure partial trisomy 4q indicating that chromosomal diagnosis is needed to confirm the reality of the malformative syndrome.