AUTOPSY FINDINGS IN A SEVERELY AFFECTED INFANT WITH A 2Q TERMINAL DELETION

We describe a 37-week gestation female infant who was born with a term inal 2q deletion. Both of her parents had normal chromosomes. This inf ant had multiple anomalies, including hypertelorism, short palpebral f issures, microphthalmia, cleft lip/cleft palate, and abnormal ears. Au topsy documented Dandy-Walker malformation with severe hydrocephalus, aortopulmonary window, secundum atrial septal defect, duodenal atresia , incomplete rotation of the bowel, gonadal dysgenesis, uterus didelph ys, and musculoskeletal defects. Compared with the other 6 children wi th 2q terminal deletion documented in the literature, this patient is the most severely affected. This patient is also the only one document ed to have died and undergone autopsy examination. The findings in thi s case provide more data for the eventual description of a ''terminal 2q deletion syndrome'' and suggest that some abnormalities, such as go nadal dysgenesis, may be present in living children with this chromoso me abnormality. (C) 1993 Wiley-Liss, Inc.