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May 15, 1967

Persistence of Hemoglobin F in D/D Translocation With Trisomy 13-15 (D1)

Author Affiliations

From the Department of Medicine, Buffalo General Hospital and the Division of Human Genetics, Children's Hospital, Buffalo. Dr. Pinkerton is a Buswell Fellow at the State University of New York at Buffalo.

JAMA. 1967;200(7):647-649. doi:10.1001/jama.1967.03120200125036

AMONG THE NUMEROUS translocations reported in man, one of the most frequently observed involves centric fusion of two D (13-15) chromosomes. D/D translocations may be "sporadic" as well as familial, ie, showing heritable transmission of the translocation in the heterozygous state. We report a D1 trisomic individual in a family segregating for a D/D translocation. Possible linkage relationships between blood group and serum factors and the translocation chromosome were investigated. Persistence of an abnormally high concentration of hemoglobin F was found and the significance of this apparently constant feature of the trisomy 13-15 (D1) syndrome is briefly discussed.

Report of a Case  The proband was aged six to eight months at the time these studies were being carried out. She was the product of the fourth pregnancy and has two brothers alive and well; the remaining pregnancy ended in abortion. Delivery occurred at full term and was normal.