A Specific Congenital Brain Defect (Arhinencephaly) in 13–15 Trisomy

Abstract

IT is now recognized that specific clinical syndromes ■ may be associated with certain human chromosome defects. One such chromosome abnormality is known as 13–15 trisomy, which is characterized by the presence of an extra chromosome of the 13–15, or, group.1 , 2 It has been d-cribed3 , 12 in males and females, Negroes and Cau sians. The following findings have been noted in most cases of 13–15 trisomy: cleft palate; harelip; eye defects; polydactyly; cardiac malformations; and the neurologic signs of mental retardation, seizures and probable deafness.A Caucasian male infant, who was studied at the Children's Hospital Medical Center, had 13–15 trisomy . . .