The science of medical genetics is progressing rapidly. The practical importance of this pro­gress should be considered by medical doctors. Both genetic and environmental factors are involved in the abnormail phenotypes considered diseases. The relative significance of the two factors varies from disease to disease. All di­seases can be viewed as falling on a spectrum in this regard. Hereditary...

venous thromboembolism at lower age groups and in the absence of other known risk factors should raise doubt of underlying genetic disorders and thombophilia. it is discovered unexpectedly in various medical procedures and may cause severe complications and life threatening problems. in the current study, potentially life threatening complications of a genetic disorder in a previously healthy c...

more often patients refer for genetic counseling, without definite diagnosis. mostly people and some doctor! have the impression the all muscular dystrophy affected by boys but is carried by girles. more often review of medical history of theses patients resolved this finding different clinical (neurologists), physiotherapist (ncv,emg) and pathologists diagnosis and also negative result molecul...