The phenotype of patients with 4q-syndrome

The 4q-syndrome comprises all microscopically visible deletions of the long arm of chromosome 4. Here we review the phenotypical characteristics of 101 literature cases and delineate this evolving deletion syndrome further. The most common anomalies observed in these patients were craniofacial (99%), digital (88%), skeletal (54%) and cardiac (50%). Nearly all of the surviving probands were delayed in their neurodevelopment and approximately two third of the study group showed ante- or postnatal growth deficiency. The overall mortality was twenty eight percent.