31 The 'Impotent Neutrophil' Syndrome

Abstract

Abstracts congenital malformations at Michael Reese Hospital; 3. a similar clustering of chromosome abnormalities in newborns in Denver, Colorado (PUCK and ROBINSON, Science [1965]) and in spontaneous abortions in London, Ontario (CARR, personal communication). For the second cluster there was a corresponding increase in the abortion population in Canada. There was no statistically significant increase in the reported incidence of 9 infectious diseases including rubella or infectious hepatitis, relative to the three clusterings defined in the newborn population. Prospective studies on the distribution of chromosome aberration in time have been conducted since November, 1964, and reveals that when the spontaneous abortion and newborn populations are considered as one conceptual population, the distribution of chromosome aberrations in time appears random. These findings indicate that either the factors responsible for nonrandom distribution of chromosome aberrations were not operating during the time period covered or that onrandom distribution of chromosome aberrations does not occur in the human population. (APS) 30 Chromosomes of Couples with Repeated SpontaneousAbortions. R. J. MCKAY, Jr., W.E. HODGKIN* and E.H. WITTE*, University of Vermont College of Medicine, Burlington, Vt. Because a 20-25 % incidence of chromosomal abnormalities has been reported among spontaneously aborted fetuses, it was decided to study the chromosomes of couples who have had 3 or more spontaneous abortions. Using a commercial kit method for culturing peripheral blood leukocytes, approximately 750-1000 metaphases were scanned in each patient in order to obtain 50 satisfactory for counting. For each patient, all metaphases with abnormal counts and 5 with normal counts were photographed and karyotypes made. Among 4 couples with repeated abortions and one or more children with multiple anomalies, 2 husbands showed a balanced translocation in all metaphases studied. Among the other 38 couples studied a number showed abnormalities in a few cells (trisomy, partial trisomy, balanced and unbalanced translocations, fragments, dicentrics, endoreduplication, tetraploidy, XO, long-armed Y, quadriradials and triradials). Partially trisomic cells were seen approximately 5 times as frequently among the women as among the men, and 6 patients were observed to have a single metaphase with a quadriradial chromosome. (APS) 31The 'Impotent NeutrophiF Syndrome. L.L. KAHLE.* H-MORENO*, and E. KAUDER*, Dept. of Pediat.Univ. of Cincinnati, Cincinnati, O. (introduced by A.M. Mauer). Leukocyte function was studied in a 2-2,5-year-old Negro male with the history of repeated abscesses, cervical and inguinal adenitis, recurrent pneumonia, seborrheic eczema of the scalp, hepatosplenomegaly and anemia. An appropriate leukocytosis with neutrophilia occurred with each infection, absolute neutrophil counts ranging from 3,900 to 24,500/mm 3 . IgG, IgA and IgM globulins were present in increased amounts. Lymph node biopsy contained caseating granuloma. Skin tests and cu...