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

Department of Pediatrics of the University of Southern California School of Medicine, Divisions of Child Development and Metabolism of the Children's Hospital of Los Angeles, 4650 Sunset Boulevard, Los Angeles, California 90027

Richard Koch

Department of Pediatrics of the University of Southern California School of Medicine, Divisions of Child Development and Metabolism of the Children's Hospital of Los Angeles, 4650 Sunset Boulevard, Los Angeles, California 90027

Jamshed Mavalwala

Department of Pediatrics of the University of Southern California School of Medicine, Divisions of Child Development and Metabolism of the Children's Hospital of Los Angeles, 4650 Sunset Boulevard, Los Angeles, California 90027

Anna Derencsenyi

Department of Anthropology, University of California, Santa Barbara, Divisions of Child Development and Metabolism of the Children's Hospital of Los Angeles, 4650 Sunset Boulevard, Los Angeles, California 90027

Alice Hatashita

Department of Pediatrics of the University of Southern California School of Medicine, Divisions of Child Development and Metabolism of the Children's Hospital of Los Angeles, 4650 Sunset Boulevard, Los Angeles, California 90027

This is an instructive description of a child who has a deletion of the short arm of the D ₁ (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.

Clinical Pediatrics, Vol. 8, No. 8, 453-458 (1969)
DOI: 10.1177/000992286900800808


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