Familial 21/22 translocation.
A family is described with 21/22 translocation, where chromosome segregation appeared to follow theoretical expectations, rather than empirical risk figures, in male and female carriers alike. The usefulness of prenatal genetic studies in genetic counseling is also demonstrated.
D000328:Adult; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002875:Chromosomes; D002904:Chromosomes, Human, 21-22 and Y; D000013:Congenital Abnormalities / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic; D014178:Translocation, Genetic