| Citation | Distinguished for contributions to human genetics and cytogenetics ranging from early studies applying the sex chromatin method to the analysis of inter-sexual states, to genome mapping through the use of chromosome rearrangements. Ferguson-Smith was the first to report the now familiar phenomenon of satellite association, the 48, XXXY karyotype, and the specificity of location of secondary constrictions in the human chromosome set. His contributions to the knowledge of human meiosis have been of the highest quality and he was the first to succeed in identifying the characteristic cross configurations at pachytene expected in subjects heterozygous for a reciprocal translocation. He is the author of provocative hypothesis concerning the location of the basic genetic lesion in Turner's syndrome, the genetic causation of XX masculinity and true hermaphroditism (by transference of a masculinising segment of Y to the X chromosome), and the non-random distribution of break points in spontaneous structural rearrangements. He has been a pioneer of methods for pre-natal diagnosis of genetic disease. |