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Autor: Claudia Bănescu Voica Foişoreanu Ionela Paşcanu E. Racoş-Szabo Anamaria Todoran Butilă
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The hereditary or genetic pathology represents an important part of the neurological diseases etiology, specially at the entities meet at children. This group of diseases represents an importând percent from neurological pathology of a child. In the last past years the molecular genetic revolutionized the medical system towards its progress.The techniques as : the band of high resolution, molecular cithogenetic, recombined AND, polymerized reaction, microarray method, usage of AND cip allows the distinguishes of submichroschopic chromosomal anomaly , of point mutation, of mutation in several gens in the same time, which represents a big progress in establishing the diagnosis and sometimes the treatment but most of all in the genetic advise given to the high risk families. There is an association between mental retard and neurological diseases with genetic determinism. The genetic causes responsible of mental retard associated to neurological diseases are represented mostly by chromosomal disorders (numerical, structural) and monogenic mutations whit mendelian transmission (metabolic disorders, mucopolysaccharidoses, disturbance development – holoprosencephalia, neuromuscular disorders – Duchenne muscular dystrophy, neurocutanate disorders, SNC malformations. In case that a syndrome is associated with neurological sings with RM the genetic tests to follow depend of the clinical appearance. To sustain this we will present to you an illustrated case which represents an patient that addressed to us with neuropsychiatry problems with neuromotor, language and psychic retard and after complete investigations proved to have a genetic determinism. There is a difficult action to establish the etiology of the illnesses with genetic causes but in the same time is a continue challenge for all involved in this process. The only way to give a prognostication and a correct genetic advice is to identify the causes. In addition it will allow to proper organize the lab tests and elaborating an adequate plan of treatment and care.