Heredity in ophthalmology / Jules François.

  • François, J. (Jules)
Date:
1961
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Heredity in ophthalmology / Jules François. Source: Wellcome Collection.

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    THE SYNDROMES 695 ¿(|)D00 ^ Deafness Polydactylism Precocious death И (3 Mental retardation Fig. 625. Syndrome of Bardet-Biedl. Recessive inheritance. Consanguinity of parents. (After Gualandi and collaborators, 1954.) Bietti (1935), Cockayne and collaborators (1935), Savin (1935), Molitch and collaborators (1935), Paton (1936), Rovinsky (1936), Steiner (1936), Pesme and Hirtz (1937), Spektor and Sokolov (1937), Avery and Sorsby (1937), Streiff and Zeltner (1938), Sorsby and collaborators (1939), Lamy (1941), Burn (1950), François and collaborators (1953), Grebe (1953), Gualandi and collaborators (1954), etc. 4. Streiff and Zeltner (1938) collected 88 families with 163 affected members out of 426. The correction of the statistical frequency of patients displaying the Bardet-Biedl syndrome in relation to the number of healthy brothers and sisters, calculated by different methods, gave them the following results: (a) Weinberg's method, 30.4%; (b) Lenz's method, 28.1%; Hogben's method, 27.3%; and so- called reduction method, 22.1%. Thus one may conclude that the frequency of the Bardet-Biedl syndrome among the brothers and sisters of those affected agrees with the theoretical fre¬ quency of 25% which one finds in simple recessive hereditary maladies. 5. In view of a certain predominance in the male sex, some authors (Mack- lin, 1936) think that the Bardet-Biedl syndrome depends upon two genes, one recessive and situated on the X chromosome and the other dominant and situated on another chromosome. If this theory is correct, the families exhibiting only affected males must be five times more numerous than those showing affected persons of the two sexes. Actually, the number of affected men does not so greatly exceed that of affected women (61:40 according to Cockayne and collaborators, 1935; 43:35, according to Panse, 1938; 60:40, according to Streiff and Zeltner, 1938; 155:74, according to Tinelli, 1944; 93:65, according to Sussman, 1951). The theory of polygenic inheritance, accepted at first by Bauer (1927), Ornsteen (1932), Savin (1935), Frank (1936), and Kielholz (1946), is gradually