Analysis of clinical variation seen in a patient with 18q terminal deletion

Abstract

In this study, we reported an infant with some manifestations of 18q- syndrome. Cytogenetic analysis revealed a deletion at 18q21.3. The patient had varying degrees of typical clinical findings associated with the 18q- syndrome. This variability in clinical findings could be correlated with size of the deletion. This pattern of delayed myelination related to the gene for myelin basic protein has been localized to the distal end of the long arm of chromosome 18. The genitourinary abnormality appears to have the congenital circumcision on our patient. We compared our patient's manifestations to those associated with the 18q- syndrome phenotype.