[Analysis of the patient contingent at a specialized pediatric clinic]. / Analiz kontingenta bol'nykh detskoi spetsializirovannoi kliniki.

ABSTRACT

Clinico-syndromologic, cytogenetic and biochemical screening embraced 330 patients of a specialized pediatric clinic. Of all cases of diseases 78.8% were either fully or partially accounted for by hereditary factors 54% chromosome-related syndromes, 5.2% monogenic syndromes, 3.6% nonclassified combinations of developmental anomalies 16% isolated congenital defects of development. Others (21.2%) displayed the organic CNS defects, embryo- and fetopathies due to environmental impacts. The study resulted in diagnosis changes in 6.7% of the cases and identification of 14 hereditary syndromes. The prevalence of hereditary pathology in the morbidity structure of this contingent strongly suggests the necessity of medical genetic consultation in their families.