Abstract
The aim of this monography is to inform the pediatricians about the importance and current capabilities of the clinical and molecular genetics. The basic principles of genetics, forms of the heredity and karyotype changes are clearly explained always with an emphasis on the role of the pediatrician in the search of genetic causes and transmission of genetic diseases in the family.
In the chapter about the clinical manifestations are described in detail the most common examples of syndromes and genetic diseases occurring in clinical practice. The text is accompanied by pictures and scoring tables, which will guide the physician to suspect on a genetic diagnosis.
The different methods of genetic testing are clearly described, also with pictorial examples and commentary. At the end of the book there is an overview of treatment options for genetic diseases and the list of genetic databases