Familial transmission of a chromosomal translocation t(2q+;Cp-).

Reciprocal translocations involving duplications of different regions of chromosomes of group C have been reported in patients with multiple congenital malformations. Some of these cases died at 2 or 3 months of age (de Grouchy et al., 1967a, b; Gray et al., 1966). Others were discovered at ages ranging from 12 months to 12 years (Edwards et al., 1962; Rohde and Catz, 1964; de Grouchy and Canet, 1965; Lindsten et al., 1965; Punnett et al., 1966; Lejeune et al., 1966; Lord, Casey, and Laurance, 1967). Each case had different phenotype probably because they represent partial trisomies for different regions of different chromosomes. Therefore, reports of all the new cases and attempts to identify the chromosomes involved will contribute to characterize new syndromes when enough patients with duplications for similar regions of the same chromosome become known. In this paper, we present a detailed description of the multiple congenital anomalies observed in a stillborn child, who had a duplication for almost all the short arm of one chromosome C (probably No. 8) and a small deletion for the long arm of a No. 2. The father of this child was found to be the balanced translocation heterozygote, which may be written 46, XY,t(2q + ;Cp -) according to the nomenclature adopted at the Chicago Conference (1966).