[A clinico-genetic study of patients with congenital deformities of the jaw bones]. / Kliniko-geneticheskoe izuchenie bol'nykh s vrozhdennymi deformatsiiami cheliustnykh kostei.

Clinical and genetic examination of 78 patients, 43 of these women with jaw bone deformations aged 16 to 30, has revealed that inferior macrognathia combined with superior macrognathia were the most incident in jaw bone deformations. The share of familial cases was 23.9%, this proving a hereditary predisposition to such conditions. These data indicate an etiologic and pathogenetic heterogeneity of patients with deformations of the jaw bones.

[Prevalence of hereditary pathologies in residents of the Kirov Province]. / Otiagoshchennost' naseleniia kirovskoi oblasti nasledstvennoi patologiei.

Medical-genetic study was carried out in the population of Kirov Province (population size about 120.000). 203 families with 334 affected with hereditary disorders were registered. The correctness of pathology classification for the inheritance type was confirmed by segregational analysis. The load of hereditary diseases in the population was: 1.25 +/- 0.06 for autosomal dominant, 1.37 +/- 0.07 for autosomal recessive and 0.22 +/- 0.06 for X-linked recessive disorders. It is suggested that variability in the values of the load of autosomal recessive disorders is determined to the large extent by genetic structure of the population.