Deletion of a portion of the long arm of chromosome 6

Abstract

We describe a 3-year-old male with deletion of part of 6q. The karyotype was 46,XY,del(6q) in both lymphocytes and skin fibroblasts. The patient had: frontal bossing, epicanthal folds, broad nasal bridge, apparently low-set and posteriorly angulated ears, micrognathia, cardiac defects, cleft palate, unusual digital anomalies, developmental retardation, and obstructive sleep apnea.