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L. Vasileva, D. Konstantinova, S. Kutsarova


The authors report five clinical cases in which the geneticist in the genetic counseling has come across family history and pedigree data for a certain type of inheritance of the disease in the concrete family and that has been the reason for changing the clinical diagnosis. In the first case report the primary diagnosis of tu cerebri was changed to Marfan syndrome. In the second case report the diagnosis of idiopathic osteoporosis was changed to osteogenesis imperfecta, an  autosomal dominant form. In the third case report the diagnosis of Friedreich ataxia was denied and clinical thinking was focused on autosomal dominant forms of neurodegenerative entities. In the fourth case report the diagnosis of Duchenne muscular dystrophy (Ð¥-recessive disease) was not confirmed and further tests were directed to eventually finding autosomal dominant forms of progressive muscular dystrophies. In fifth case report the primary diagnosis of'diversions in the endocrine status' was not confirmed because an autosomal dominant anhydrotic ectodermal dysplasia was found out. It was pointed out that geneticist's efforts in these and other similar cases contributed to a more precise diagnosis or even changed the primary diagnosis. This optimized the work in the clinical settings and made the prevention of some hereditary diseases possible.


genetic counseling; clinical diagnosis; hereditary diseases; Varna

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L. Vasileva

D. Konstantinova

S. Kutsarova

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