A FAMILIAL 3/18 RECIPROCAL TRANSLOCATION RESULING IN CHROMOSOME DUPLICATION-DEFICIENCY (3+-18Q-)

Following 3 abortions a mother with 3/18 reciprocal translocation gave birth to 2 sons with multiple congenital abnormalities. Chromosome analysis in one of them revealed trisomy for a segment of one arm of chromosome No. 3 and a deletion involving the long arm of No. 18. The clinical features resembled closely those reported in deletion of the long arm of chromosome No. 18. At the age of 12 months he had normal serum levels of IgM, IgG and IgA. Both parents and the child had blood group O. Serum from the child revealed an absence of anti‐A isoagglutinins, and anti‐B isoagglutinins could only be detected with special technique, wheras both parents had relatively high titres of both isoagglutinins. The gene loci of MNS, Rh, Duffy, Gm, Hp, and phosphoglucomutase can be excluded from the deleted part of chromosome No. 18. Copyright © 1969, Wiley Blackwell. All rights reserved