Familial complex autosomal translocations involving chromosomes 7, 8, and 9 exhibiting male and female transmission with segregation and recombination.
A family showing a complex translocation between chromosomes 7, 8, and 9 with breakpoints at 7q21, 7q33, 8p23, and 9p23 is described. The proband had been referred because of repeated spontaneous abortions. This is only the second family to be ascertained in this way. Twenty-three other cases of complex translocations are briefly reviewed, eight of which were de novo in origin and 15 familial. All but one of the familial cases showed maternal transmission only. The present family shows both maternal and paternal transmission and is thought to be the first exhibiting recombination from a male carrier. The origin and transmission of the complex translocation is followed through three generations.
D000026:Abortion, Habitual / Q000235:genetics*; D002871:Chromosome Banding; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011995:Recombination, Genetic; D014178:Translocation, Genetic