The patient has language-based learning disabilities and behavioral features consistent with diagnoses of autism and attention deficit hyperactivity disorder (ADHD) of the inattentive type.

He also displays some other features previously associated with chromosome 3q29 microdeletion such as an elongated face, long fingers, and joint laxity.

This report further expands the phenotypic spectrum to include the possibility of normal intelligence as corroborated by formal, longitudinal psycho-educational testing.

[5] In addition, a deletion at 3q29 was found to confer an increase to the odds of developing schizophrenia in a study of copy number variants and their effect on that disorder.

[6] The 3q29 Project at Rutgers University is focused on understanding the phenotypic spectrum, natural history, and molecular mechanism of 3q29 deletion syndrome [1].