ABSTRACT
The karyotype of 2715 patients suspected of chromosome pathology has been studied. Chromosomal aberrations in the system of autosomes has been revealed. A diagnostic programme promoting a selective screening of chromosome pathology in nonspecialized medical institutions is developed. Medical-social rehabilitation programme for patients with chromosome syndrome is worked out.
Subject(s)
Chromosome Aberrations/diagnosis , Chromosome Aberrations/genetics , Chromosome Aberrations/rehabilitation , Chromosome Disorders , Diagnosis, Differential , Diagnostic Errors , Female , Genetic Counseling , Humans , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Intellectual Disability/rehabilitation , Phenotype , Pregnancy , Prenatal Diagnosis , Syndrome , UkraineABSTRACT
As many as 100 patients with late sequelae of closed craniocerebral injuries (CCCI) and 50 healthy persons underwent a clinico-genealogical and phenotypic analysis. Multifactorial diseases (in particular essential hypertension and other cardiovascular diseases) which correlate with the clinical features of late sequelae of CCCI were noted to occur in the patients' pedigree significantly more often as compared to normal persons. The patients manifest a high frequency of the stigmas of dysembryogenesis. After CCCI part of them manifested certain hereditary diseases. Genetic risk factors should be taken into account in forecasting CCCI outcomes and planning follow up measures.
