Partial Deletion of Short Arms of Chromosome No. 5

Abstract

SINCE the development of simple techniques to culture peripheral blood leukocytes for the study of chromosomes,¹ much effort has been made to link specific combinations of physical defects and mental retardation to specific abnormal chromosomal patterns. The child herein reported has the severe mental retardation and multiple physical anomalies of the syndrome recently reported by Lejeune et al.² Chromosomal analyses of cultures of the peripheral white blood cells have revealed the characteristic partial deletion of the short arms of chromosome No. 5. Report of Case This 13-year-old white girl was admitted in October, 1961, at the age of 10 years, to the Murdoch Center in Butner, NC. Past history reveals that the presence of twins was suspected in the third trimester of gestation and was confirmed by an x-ray of the abdomen at that time. Pregnancy and delivery were uneventful. The first, and normal, twin was born spontaneously