A Preliminary Note on a Case of Trisomic Down's Syndrome with a Short Arm Deletion of a G Group (21-22) Chromosome

Abstract

A 7 year old mentally retarded girl showing the typical signs of Down's syndrome, and her clinically normal parents were studied cytogenetically. It was found that the patient showed trisomy for one of the G group chromosomes, and that one of the trisomic elements is characterized by a deletion of the short arm. Her phenotypically normal mother was found to possess a short arm deleted chromosome of a similar type in G group. Her normal father possessed a normal male complement.