Developmental abnormalities associated with long arm deletion of chromosome No. 6

Abstract

A patient is reported who had a partial terminal deletion of the long arm of chromosome No. 6. His clinical findings included developmental delay, failure to thrive, neurologic abnormalities, and multiple congenital malformations. Among the malformations were unusual facial features, cleft palate, atrial septal defect, and abnormalities of the external genitalia. The patient''s features are compared with others who may have material deleted from the long arm of chromosome No. 6.