Familial Deletion of the Short Arm of the D1-Chromosome (46, XX, 13 p-) Not Associated with Loss of Haptoglobin or Catalase Activity

Abstract

This is an instructive description of a child who has a deletion of the short arm of the D₁(number 13) chromosome. She is mentally retarded and has multiple congenital malformations, catalase and haptoglobin activity, ruling out the possibility that the loci for these systems are present on the deleted segment. The use of autoradiography is discussed. It is stressed that examination of the palmar and plantar dermatoglyphics should be part of the diagnostic work-up for retardation.