The Pelger-Huet Anomaly: A New Familial Association with Polydactyly and Trisomy 13 Syndrome

Mikhail Berman, Walter Fried, William Knospe, Section of Haematology, Department of Internal Medicine, Rush Presbyterian St. Luke’s Medical Center, Chicago, IL 60612 (USA The Pelger-Huet (PH) anomaly is an autosomal dominant hereditary trait characterized in the heterozygous state by increased condensation of nuclear chromatin, poor segmentation of granulocytes, and a benign course. Its unique nuclear phenotype suggests an inherited defect in the genetic control of the last postmitotic stage of granulocytic maturation which begins with elongation of nucleus of metamyelocyte. So far no studies have shown any correlation between PH and the specific autosome that carries mutant gene or genes. In one study, linkage was established between PH and an unusual autosomal form of muscular dystrophy [1]. Unfortunately, the latter trait has no chromosomal assignment. In 1981, Aznar and Vaya [2] described an 18-month-old girl with the homozygous form of PH and 6 fingers on one hand and 6 toes on both feet. Poly-