The phenotype of partial dup(7q) reconsidered: a report of five new cases

Abstract

Five unrelated patients with partial trisomy 7q are described. In two of them the duplicated region was 7q21----qter and in the others 7q22----qter, 7q34----qter and 7q35----qter, respectively. Clinical features were compared with those reported in published cases. Karyotype-phenotype correlations showed a relationship between the size of the unbalanced region and the survival, and prenatal and postnatal growth. In contrast, the same proportionality was not demonstrated between the severity of dysmorphic features and the size of the duplicated region. However, cleft palate seemed associated rather characteristically with dup 7q22/31----qter.